ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1506G>A (p.Lys502=) (rs181126043)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664693 SCV000788696 likely benign Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-01-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155227 SCV000204913 likely benign not specified 2013-05-13 criteria provided, single submitter clinical testing Lys502Lys in exon 13 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 2/4284 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS).

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