ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.672A>G (p.Gly224=)

gnomAD frequency: 0.00004  dbSNP: rs375059614
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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 RCV001423030 SCV001625600 likely benign not provided 2024-10-02 criteria provided, single submitter clinical testing
GeneDx RCV001423030 SCV004031942 uncertain significance not provided 2023-03-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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