ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.819+10G>C (rs41282936)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041302 SCV000064993 benign not specified 2012-05-29 criteria provided, single submitter clinical testing 819+G>C in intron 10 of USH1C: This variant is not expected to have clinical sig nificance because it has been identified in 1.7% (122/7020) of European American chromosomes and 0.1% (4/3738) of African American chromosomes from a broad popu lation by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs41282936).
GeneDx RCV000041302 SCV000169724 benign not specified 2013-05-12 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.
Illumina Clinical Services Laboratory,Illumina RCV000350335 SCV000369504 likely benign Usher syndrome, type 1C 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282395 SCV001159070 benign none provided 2020-01-20 criteria provided, single submitter clinical testing
Invitae RCV001518344 SCV001727017 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000350335 SCV001456082 benign Usher syndrome, type 1C 2020-09-16 no assertion criteria provided clinical testing

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