ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.1091= (p.His364=)

gnomAD frequency: 0.98173  dbSNP: rs10817610
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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, Mass General Brigham Personalized Medicine RCV000038858 SCV000062536 benign not specified 2012-02-02 criteria provided, single submitter clinical testing African American frequency = 3530/3738
Invitae RCV001515952 SCV001724139 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001659977 SCV001876663 benign Autosomal recessive nonsyndromic hearing loss 31 2021-07-30 criteria provided, single submitter clinical testing

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