ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.749G>A (p.Gly250Asp)

dbSNP: rs121907959
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002226437 SCV002505562 likely pathogenic Tay-Sachs disease 2022-03-22 criteria provided, single submitter clinical testing This variant was identified as homozygous._x000D_ Criteria applied: PM3, PM5, PM2_SUP, PP3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002226437 SCV002601741 likely pathogenic Tay-Sachs disease 2022-11-17 criteria provided, single submitter clinical testing
OMIM RCV000004108 SCV000024274 pathogenic Tay-sachs disease, juvenile 1992-01-01 no assertion criteria provided literature only

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