ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.2851G>A (p.Ala951Thr)

gnomAD frequency: 0.00304  dbSNP: rs148261231
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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) RCV000081388 SCV000113319 benign not specified 2013-09-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000898222 SCV001042418 likely benign not provided 2025-01-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003614032 SCV004562971 likely benign Retinitis pigmentosa 38 2023-11-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000898222 SCV005262706 likely benign not provided criteria provided, single submitter not provided

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