ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.75C>T (p.Gly25=) (rs771128098)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000219867 SCV000270110 benign not specified 2017-06-22 criteria provided, single submitter clinical testing p.Gly25Gly in exon 1 of DFNB31: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.3% (39/11234) of A frican chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.bro adinstitute.org; dbSNP rs771128098).
Invitae RCV000973441 SCV001121198 likely benign not provided 2020-10-08 criteria provided, single submitter clinical testing
GeneDx RCV000973441 SCV001813134 likely benign not provided 2020-10-07 criteria provided, single submitter clinical testing

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