ClinVar Miner

Submissions for variant NM_000405.5(GM2A):c.261G>A (p.Glu87=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003429914 SCV004157426 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing GM2A: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003598177 SCV004554264 likely benign Tay-Sachs disease, variant AB 2023-07-29 criteria provided, single submitter clinical testing

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