ClinVar Miner

Submissions for variant NM_144672.4(OTOA):c.1630-5C>T

gnomAD frequency: 0.62768  dbSNP: rs215901
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041224 SCV000064915 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 1630-5C>T in Intron 14 of OTOA: This variant is not expected to have clinical si gnificance because it has been identified in 40.7% (1520/3738) of African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs215901).
PreventionGenetics, part of Exact Sciences RCV000041224 SCV000316025 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000041224 SCV000717009 benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001787843 SCV002029328 benign Autosomal recessive nonsyndromic hearing loss 22 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054808 SCV002332321 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002054808 SCV005293109 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000041224 SCV001743065 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000041224 SCV001957695 benign not specified no assertion criteria provided clinical testing

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