ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) (rs56165709)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041285 SCV000064976 benign not specified 2012-05-15 criteria provided, single submitter clinical testing Ala871Thr in Exon 26 of USH1C: This variant is not expected to have clinical sig nificance because it has been identified in 0.5% (35/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs56165709). In addition, this variant has be en reported in one individual with Usher type 1 who carried two other truncating USH1C variants assumed to explain disease, one in cis with Ala871Thr (Zwaenepoe le 2001).
GeneDx RCV000041285 SCV000169729 benign not specified 2013-05-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041285 SCV000345732 benign not specified 2016-09-19 criteria provided, single submitter clinical testing
Counsyl RCV000670907 SCV000795821 uncertain significance Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-11-19 criteria provided, single submitter clinical testing

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