ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.759G>A (p.Val253=)

gnomAD frequency: 0.00412  dbSNP: rs117513345
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247584 SCV000304644 likely benign not specified 2016-04-05 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000247584 SCV000341516 benign not specified 2016-05-16 criteria provided, single submitter clinical testing
Invitae RCV000475714 SCV000557160 benign Tay-Sachs disease 2021-12-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001092608 SCV000603955 benign not provided 2020-12-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092608 SCV001249189 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000247584 SCV001426926 benign not specified 2020-07-19 criteria provided, single submitter clinical testing
GeneDx RCV001092608 SCV001938234 benign not provided 2021-04-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19858779)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000475714 SCV000733467 likely benign Tay-Sachs disease no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000247584 SCV001918987 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000475714 SCV002086286 benign Tay-Sachs disease 2017-05-25 no assertion criteria provided clinical testing

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