ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp) (rs2230516)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000175453 SCV000226935 uncertain significance not provided 2014-10-21 criteria provided, single submitter clinical testing
Invitae RCV000175453 SCV001119533 benign not provided 2020-11-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001374 SCV001158572 likely benign Retinitis pigmentosa 38 2019-01-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001132911 SCV001292591 benign Retinitis pigmentosa 2017-08-19 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Clinical Genetics,Academic Medical Center RCV000175453 SCV001923624 likely benign not provided no assertion criteria provided clinical testing

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