ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.64G>A (p.Gly22Ser)

gnomAD frequency: 0.00001  dbSNP: rs779795137
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001771518 SCV002002792 uncertain significance not provided 2021-04-05 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002488596 SCV002778329 uncertain significance Autosomal recessive Alport syndrome; Benign familial hematuria 2021-08-15 criteria provided, single submitter clinical testing

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