ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.2467G>C (p.Glu823Gln)

dbSNP: rs55924349
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001055389 SCV001219777 likely benign not provided 2025-01-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001131965 SCV001291612 uncertain significance 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. 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005394693 SCV006055692 uncertain significance Retinitis pigmentosa 38 2021-07-30 criteria provided, single submitter research

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