ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.764G>A (p.Gly255Asp) (rs79509430)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038901 SCV000062579 benign not specified 2012-02-08 criteria provided, single submitter clinical testing Gly255Asp in exon 2 of DFNB31: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence, and ha s been identified in 1.3% (49/3689) of African American chromosomes from a broad , though clinically unspecified population (NHLBI Exome Sequencing Project; http ://evs.gs.washington.edu/EVS, dbSNP rs79509430).
Athena Diagnostics Inc RCV000711442 SCV000841809 likely benign not provided 2018-05-25 criteria provided, single submitter clinical testing
Invitae RCV000711442 SCV001030273 benign not provided 2020-11-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282736 SCV001159744 benign none provided 2019-09-12 criteria provided, single submitter clinical testing

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