ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.1493A>G (p.Asn498Ser)

gnomAD frequency: 0.02007  dbSNP: rs35858762
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999828 SCV000604218 benign Retinitis pigmentosa 38 2023-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000507786 SCV001118723 benign not provided 2024-08-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001132831 SCV001292503 benign 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). 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.
Breakthrough Genomics, Breakthrough Genomics RCV000507786 SCV005239510 benign not provided criteria provided, single submitter not provided

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