ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1838G>A (p.Gly613Asp)

dbSNP: rs128621209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000012141 SCV002512330 likely pathogenic X-linked agammaglobulinemia 2021-03-02 criteria provided, single submitter clinical testing ACMG classification criteria: PS4 supporting, PM2, PP1, PP2, PP3
OMIM RCV000012141 SCV000032375 pathogenic X-linked agammaglobulinemia 1994-10-01 no assertion criteria provided literature only

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