ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.582G>A (p.Ala194=)

gnomAD frequency: 0.00016  dbSNP: rs112614306
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000864479 SCV001471840 likely benign not provided 2020-03-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001276073 SCV001612331 likely benign Tay-Sachs disease 2021-10-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001276073 SCV001786789 likely benign Tay-Sachs disease 2021-07-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908200 SCV004723728 likely benign HEXA-related disorder 2021-10-29 criteria provided, single submitter 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).
Natera, Inc. RCV001276073 SCV001461910 uncertain significance Tay-Sachs disease 2018-07-20 no assertion criteria provided clinical testing

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