ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.2256= (p.Gln752=)

gnomAD frequency: 0.99456  dbSNP: rs6478078
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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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 RCV000038886 SCV000062564 benign not specified 2012-02-02 criteria provided, single submitter clinical testing African American frequency = 68/3738 (ESP data)
Labcorp Genetics (formerly Invitae), Labcorp RCV001515950 SCV001724137 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657844 SCV001876656 benign Autosomal recessive nonsyndromic hearing loss 31 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001515950 SCV005268836 benign not provided criteria provided, single submitter not provided

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