ClinVar Miner

Submissions for variant NM_006383.4(CIB2):c.272T>C (p.Phe91Ser)

gnomAD frequency: 0.00003  dbSNP: rs397515411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002496493 SCV002810911 likely pathogenic Autosomal recessive nonsyndromic hearing loss 48; Usher syndrome type 1J 2022-01-12 criteria provided, single submitter clinical testing
OMIM RCV000032887 SCV000056658 pathogenic Autosomal recessive nonsyndromic hearing loss 48 2012-11-01 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291223 SCV001479648 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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