ClinVar Miner

Submissions for variant NM_183059.2(RD3):c.584A>T (p.Asp195Val) (rs143207434)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514169 SCV000609898 likely benign not provided 2017-06-19 criteria provided, single submitter clinical testing
Invitae RCV000541074 SCV000641947 benign Leber congenital amaurosis 12 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000593302 SCV000707176 benign not specified 2017-04-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000541074 SCV001258246 likely benign 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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