ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.2070G>A (p.Ala690=) (rs145757452)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152044 SCV000200634 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ala690Ala in Exon 21 of TMC1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1/7020 European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs145757452).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729025 SCV000856659 uncertain significance not provided 2017-09-20 criteria provided, single submitter clinical testing

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