ClinVar Miner

Submissions for variant NM_000245.4(MET):c.2521T>G (p.Phe841Val)

dbSNP: rs794728016
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
School of Biological Sciences, University of the Punjab RCV000185580 SCV000211990 pathogenic Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 2015-03-02 criteria provided, single submitter research
OMIM RCV000202585 SCV000257538 pathogenic Autosomal recessive nonsyndromic hearing loss 97 2015-05-04 no assertion criteria provided literature only

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