ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2106C>T (p.Arg702=) (rs369787754)

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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 RCV000151495 SCV000199569 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Arg702Arg in Exon 18 of MYO7A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.1% (6/8388) of Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs369787754).
Invitae RCV000941064 SCV001086943 benign not provided 2019-02-20 criteria provided, single submitter clinical testing

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