ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.397dup (p.His133fs) (rs111033187)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000036133 SCV000487442 likely pathogenic Usher syndrome, type 1 2016-11-03 criteria provided, single submitter clinical testing
Counsyl RCV000409086 SCV000487443 likely pathogenic Deafness, autosomal recessive 2 2016-11-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000844713 SCV000059785 likely pathogenic Rare genetic deafness 2008-03-01 no assertion criteria provided clinical testing

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