ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter) (rs397516315)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036166 SCV000059818 pathogenic Rare genetic deafness 2010-08-13 criteria provided, single submitter clinical testing The Tyr1607X variant in MYO7A has not been reported in the literature nor previo usly identified by our laboratory. However, this variant leads to a premature st op codon at codon 1607, which is predicted to lead to a truncated or absent prot ein. In summary, this variant meets our criteria to be classified as pathogenic.
Counsyl RCV000670662 SCV000795546 likely pathogenic Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-11-09 criteria provided, single submitter clinical testing

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