ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr) (rs41298131)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665330 SCV000789434 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-01-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324036 SCV000374198 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371726 SCV000374199 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267119 SCV000374200 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036128 SCV000059780 uncertain significance not specified 2014-12-10 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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