ClinVar Miner

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

gnomAD frequency: 0.00475  dbSNP: rs79509430
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Total submissions: 7
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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 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 2021-12-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000711442 SCV001159744 benign not provided 2020-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000711442 SCV001859946 benign not provided 2020-01-31 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000038901 SCV001919864 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000038901 SCV001966290 benign not specified no assertion criteria provided clinical testing

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