ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2134-12T>C (rs76769358)

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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 RCV000041265 SCV000064956 benign not specified 2012-03-26 criteria provided, single submitter clinical testing 2134-12T>C in intron 21 of USH1C: This variant is not expected to have clinical significance because it has been identified in 7.7% (524/7020) of European Ameri can chromosomes and 1.7% (62/3738) of African American chromosomes in a broad po pulation by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS /; dbSNP rs76769358).
GeneDx RCV000041265 SCV000169727 benign not specified 2013-05-08 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.
Nilou-Genome Lab RCV001538017 SCV001755000 benign Usher syndrome, type 1C 2021-07-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001538018 SCV001755001 benign Deafness, autosomal recessive 18 2021-07-10 criteria provided, single submitter clinical testing

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