ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2616C>T (p.Ala872=)

gnomAD frequency: 0.00019  dbSNP: rs141591891
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Total submissions: 2
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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 RCV000613425 SCV000711227 likely benign not specified 2017-01-13 criteria provided, single submitter clinical testing p.Ala872Ala in Exon 26 of USH1C: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 10/10394 African ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs141591891).
GeneDx RCV001584411 SCV001820177 likely benign not provided 2021-03-03 criteria provided, single submitter clinical testing

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