ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1548G>A (p.Pro516=)

gnomAD frequency: 0.00003  dbSNP: rs780428813
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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 RCV000222384 SCV000271147 likely benign not specified 2016-02-23 criteria provided, single submitter clinical testing p.Pro516Pro 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 3/61356 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs780428813).
Counsyl RCV000670018 SCV000794827 likely benign Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2017-10-17 criteria provided, single submitter clinical testing

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