ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2499C>T (p.Ile833=) (rs34581703)

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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 RCV000041283 SCV000064974 benign not specified 2010-10-06 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it does not a lter an amino acid residue, is not located near a splice junction, and has a het erozygous allele frequency of 2/76 (2.6%) (rs34581703).
Illumina Clinical Services Laboratory,Illumina RCV000345359 SCV000369461 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406651 SCV000369462 likely benign Usher syndrome, type 1C 2018-01-13 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.
Invitae RCV000903610 SCV001048085 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000041283 SCV001157489 benign not specified 2018-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000041283 SCV000730467 likely benign not specified 2018-01-12 no assertion criteria provided 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.

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