ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) (rs111033416)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036066 SCV000059718 likely benign not specified 2015-01-22 criteria provided, single submitter clinical testing p.Arg623His in exon 16 of MYO7A: This variant is not expected to have clinical significance because it has been identified in 0.325% (26/7988) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; rs111033416). Although this variant has been reported in the heterozygous state in one individual with retinal dystrophy (Watson 2014) and in three indiv iduals with hearing loss by our laboratory, the population frequency indicates t hat it is likely benign.
Counsyl RCV000664583 SCV000788571 likely benign Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-10-03 criteria provided, single submitter clinical testing
Invitae RCV000933794 SCV001079503 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing

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