ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1146+8G>A

gnomAD frequency: 0.00167  dbSNP: rs201453018
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670881 SCV000795794 likely benign Tay-Sachs disease 2017-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670881 SCV001003765 benign Tay-Sachs disease 2025-01-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000670881 SCV001461904 benign Tay-Sachs disease 2020-04-23 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003980295 SCV004788422 likely benign HEXA-related disorder 2019-05-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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