ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5559C>T (p.His1853=) (rs373612656)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664543 SCV000788523 likely benign Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-01-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036191 SCV000059843 likely benign not specified 2017-05-31 criteria provided, single submitter clinical testing p.His1853His in exon 40 of MYO7A: This variant t is not expected to have clinica l significance because it does not alter an amino acid residue and is not locate d within the splice consensus sequence. It has been identified in 0.2% (54/25070 ) of Finish chromosomes and 61/123476 European chromosomes by the Genome Aggrega tion Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs373612656).

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