ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.3250-15G>A

gnomAD frequency: 0.00215  dbSNP: rs377715562
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247530 SCV000314654 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513141 SCV001720690 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001513141 SCV005279056 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000247530 SCV001924057 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001513141 SCV001973438 likely benign not provided no assertion criteria provided clinical testing

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