ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.612C>A (p.Thr204=) (rs1555062863)

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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 RCV000608276 SCV000713655 likely benign not specified 2017-09-04 criteria provided, single submitter clinical testing p.Thr204Thr in exon 7 of MYO7A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. This variant has been identified in 1/111690 of European chromosomes by the Genome Aggregation Database (gnomAD, http://gnom ad.broadinstitute.org).

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