ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.399C>A (p.Ile133=)

gnomAD frequency: 0.00008  dbSNP: rs372812523
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001148423 SCV001309318 uncertain significance Retinitis pigmentosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001148424 SCV001309319 uncertain significance Congenital stationary night blindness autosomal dominant 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001324702 SCV001515666 likely benign not provided 2023-12-04 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001535704 SCV001749787 not provided Congenital stationary night blindness autosomal dominant 1; Retinitis pigmentosa 4 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 10-29-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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