ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser)

gnomAD frequency: 0.00004  dbSNP: rs575121167
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670546 SCV000795409 uncertain significance Tay-Sachs disease 2017-11-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000865978 SCV001149515 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670546 SCV001651334 likely benign Tay-Sachs disease 2025-01-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000670546 SCV001461903 likely benign Tay-Sachs disease 2020-04-18 no assertion criteria provided clinical testing

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