ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.482G>A (p.Arg161Gln)

gnomAD frequency: 0.12044  dbSNP: rs17852293
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000292002 SCV000387963 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000291 SCV001156942 benign Leber congenital amaurosis 13 2023-11-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001109348 SCV001266675 likely benign Retinitis pigmentosa 2018-01-15 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001000291 SCV001719096 benign Leber congenital amaurosis 13 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001000291 SCV001750145 benign Leber congenital amaurosis 13 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001683261 SCV001899540 benign not provided 2021-05-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27939946)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001805013 SCV002050738 likely benign not specified 2021-12-03 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888727 SCV004707753 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001277205 SCV001464104 benign Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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