ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1386G>A (p.Gln462=) (rs141564204)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000883516 SCV001026828 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001195474 SCV001365851 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Gln462Gln in Exon 16 of USH1C: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.1% (4/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs141564204).
GeneDx RCV000883516 SCV001768186 likely benign not provided 2020-01-24 criteria provided, single submitter clinical testing

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