ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1404A>G (p.Gln468=)

dbSNP: rs774673142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002106466 SCV002437393 likely benign not provided 2024-02-19 criteria provided, single submitter clinical testing
GeneDx RCV002106466 SCV004014417 uncertain significance not provided 2023-01-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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