Primo
VUS
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Primo
VUS
VUS evidence workbench · GRCh37
PrimoVar ↗
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Inheritance: unknown
Autosomal dominant
Autosomal recessive
X-linked
Onset: unknown
Antenatal / congenital
Neonatal (0–28 days)
Infantile (1–12 months)
Childhood (1–5 y)
Juvenile (5–15 y)
Young adult (16–40 y)
Middle age (40–60 y)
Late (> 60 y)
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Paste a VCF line (hg19), coordinates, an HGVS c. on a RefSeq/Ensembl transcript, or an rsID.
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Model
Claude Sonnet 5.5
Claude Opus 5.5
Claude Haiku 5.5
Summary language
English
Arabic
Primary predictor for PP3/BP4 (missense)
REVEL
BayesDel
VEST4
CADD
PM2 max AF – dominant
PM2 max AF – recessive
BS1 AF – dominant
BS1 AF – recessive
Frequency rules use gnomAD v4 grpmax (exomes + genomes, populations with AN ≥ 2000). BA1 is fixed at 5%.
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