ClinVar Miner

Submissions for variant NM_005869.4(CWC27):c.766C>G (p.Pro256Ala)

gnomAD frequency: 0.36437  dbSNP: rs7735338
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515836 SCV001723995 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664936 SCV001876456 benign Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001515836 SCV005299275 benign not provided criteria provided, single submitter not provided

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