ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.2193C>T (p.Ser731=)

gnomAD frequency: 0.00004  dbSNP: rs147358257
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Total submissions: 2
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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 RCV000216972 SCV000270106 likely benign not specified 2015-07-30 criteria provided, single submitter clinical testing p.Ser731Ser in exon 9 of DFNB31: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 2/10236 African a nd 2/16512 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, ht tp://exac.broadinstitute.org; dbSNP rs147358257).
Invitae RCV001302651 SCV001491866 likely benign not provided 2023-12-18 criteria provided, single submitter clinical testing

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