ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.946G>C (p.Glu316Gln)

gnomAD frequency: 0.00366  dbSNP: rs35336155
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Total submissions: 9
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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 RCV000155398 SCV000205085 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Glu316Gln in Exon 12 of USH1C: This variant is not expected to have clinical sig nificance because it has been identified in 0.5% (20/3702) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs35336155).
Eurofins Ntd Llc (ga) RCV000155398 SCV000225629 benign not specified 2015-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000889692 SCV000523722 benign not provided 2018-10-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000889692 SCV001033393 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001106340 SCV001263398 uncertain significance Usher syndrome type 1C 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000889692 SCV003799928 likely benign not provided 2022-07-15 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000155398 SCV001919388 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000155398 SCV001964112 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001106340 SCV002084600 benign Usher syndrome type 1C 2019-12-05 no assertion criteria provided clinical testing

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