ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.1451-20G>A

gnomAD frequency: 0.22861  dbSNP: rs3811633
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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 RCV001522372 SCV001731904 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001776244 SCV002014189 benign Retinitis pigmentosa 38 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001522372 SCV005239509 benign not provided criteria provided, single submitter not provided

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