ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1632C>T (p.Asp544=) (rs142545736)

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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, Partners HealthCare Personalized Medicine RCV000152547 SCV000201758 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Asp544Asp in Exon 18 of USH1C: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.3% (13/3738) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (; dbSNP rs142545736)."
Invitae RCV000969061 SCV001116552 benign not provided 2018-03-29 criteria provided, single submitter clinical testing
GeneDx RCV000969061 SCV001753016 likely benign not provided 2021-05-06 criteria provided, single submitter clinical testing

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