ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2004C>A (p.Pro668=)

gnomAD frequency: 0.00007  dbSNP: rs201586291
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Total submissions: 3
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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 RCV000825846 SCV000967330 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Pro668Pro in exon 18 of USH1C: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.41% (47/11468) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs201586291).
Invitae RCV000903646 SCV001048124 benign not provided 2022-08-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000903646 SCV001473277 likely benign not provided 2019-09-19 criteria provided, single submitter clinical testing

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