ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) (rs201834743)

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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 RCV000036930 SCV000060585 likely benign not specified 2013-02-19 criteria provided, single submitter clinical testing Ile1158Ile in Exon 27A of MYO7A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.2% (8/4240) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
Counsyl RCV000664754 SCV000788763 likely benign Deafness, autosomal recessive 2; Usher syndrome, type 1 2016-12-29 criteria provided, single submitter clinical testing
Invitae RCV000910290 SCV001055145 benign not provided 2018-11-28 criteria provided, single submitter clinical testing

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