ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1146dup (p.Gln383fs) (rs1554960388)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671259 SCV000796216 likely pathogenic Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-12-05 criteria provided, single submitter clinical testing
GeneDx RCV001527771 SCV001738903 pathogenic not provided 2021-01-25 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016) This variant is associated with the following publications: (PMID: 27957503)

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