ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.139C>T (p.Arg47Cys)

gnomAD frequency: 0.00854  dbSNP: rs34049451
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153816 SCV000203396 benign not specified 2014-02-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000877817 SCV001020607 benign Leber congenital amaurosis 12 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000877817 SCV001254268 uncertain significance Leber congenital amaurosis 12 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV003416004 SCV004125547 benign not provided 2023-04-01 criteria provided, single submitter clinical testing RD3: BS1, BS2

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