ClinVar Miner

Submissions for variant NM_000405.5(GM2A):c.39G>A (p.Leu13=)

gnomAD frequency: 0.00001  dbSNP: rs374161170
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000808931 SCV000949064 likely benign Tay-Sachs disease, variant AB 2022-09-07 criteria provided, single submitter clinical testing

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