ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6498C>A (p.Tyr2166Ter) (rs397516331)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036236 SCV000059888 pathogenic Rare genetic deafness 2011-06-21 criteria provided, single submitter clinical testing The Tyr2166X variant in MYO7A has not been reported in the literature nor previo usly identified by our laboratory. The Tyr2166X variant leads to a premature sto p codon at position 2166, which is predicted to lead to a truncated or absent pr otein. In summary, this variant meets our criteria to be classified as pathogeni c.

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