ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.674+4G>A

gnomAD frequency: 0.00170  dbSNP: rs202095395
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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, Mass General Brigham Personalized Medicine RCV000155397 SCV000205084 benign not specified 2016-08-02 criteria provided, single submitter clinical testing c.674+4G>A in exon 08 of USH1C: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (47/9960) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs202095395).
Eurofins Ntd Llc (ga) RCV000726548 SCV000345428 uncertain significance not provided 2016-09-07 criteria provided, single submitter clinical testing
GeneDx RCV000726548 SCV000730464 likely benign not provided 2021-05-06 criteria provided, single submitter clinical testing
Invitae RCV000726548 SCV001116553 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001103386 SCV001260140 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Natera, Inc. RCV001103386 SCV002084722 benign Usher syndrome type 1C 2019-10-21 no assertion criteria provided clinical testing

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