ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.107-12491C>T

gnomAD frequency: 0.00001  dbSNP: rs749001958
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002195070 SCV002359573 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV002195070 SCV004168149 uncertain significance not provided 2023-05-03 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter protein function; Has not been previously published as pathogenic or benign to our knowledge; Reported using an alternate transcript of the gene

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