ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3550C>A (p.Pro1184Thr)

gnomAD frequency: 0.00001  dbSNP: rs1057524309
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429703 SCV000535156 uncertain significance not provided 2023-02-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function

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