ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.946del (p.Cys316fs)

dbSNP: rs1064793749
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481453 SCV000566933 likely pathogenic not provided 2020-10-14 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 43 amino acids are replaced with 33 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV000509396 SCV000606889 not provided Autosomal dominant retinitis pigmentosa no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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