ClinVar Miner

Submissions for variant NM_018192.4(P3H2):c.634-17C>T

gnomAD frequency: 0.74024  dbSNP: rs1719599
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001511599 SCV001718874 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001511599 SCV001839825 benign not provided 2019-08-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730759 SCV001981342 benign Myopia, high, with cataract and vitreoretinal degeneration 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001511599 SCV005305350 benign not provided criteria provided, single submitter not provided

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