ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1233C>T (p.Tyr411=) (rs377439949)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668545 SCV000793166 likely benign Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-07-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152552 SCV000201765 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Tyr411Tyr in Exon 15 of USH1C: 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 1/3738 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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