ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.382C>T (p.Pro128Ser)

gnomAD frequency: 0.00001  dbSNP: rs975120661
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521004 SCV000621467 uncertain significance not provided 2019-12-11 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV003139742 SCV003828185 uncertain significance Porencephaly 2 2021-10-12 criteria provided, single submitter clinical testing

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