ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) (rs782077721)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622289 SCV000741575 pathogenic Inborn genetic diseases 2016-06-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV001002727 SCV001156421 pathogenic Usher syndrome type 1 2019-02-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075145 SCV001240756 pathogenic Retinal dystrophy 2018-09-19 criteria provided, single submitter clinical testing

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