ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp) (rs1064074)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041279 SCV000064970 benign not specified 2009-06-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000041279 SCV000316312 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390848 SCV000369465 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302668 SCV000369466 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Mendelics RCV000988495 SCV001138240 benign Usher syndrome, type 1C 2019-05-28 criteria provided, single submitter clinical testing

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