ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4326_4328del (p.Thr1443del) (rs941454321)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671019 SCV000795956 uncertain significance Alport syndrome, autosomal recessive 2017-12-01 criteria provided, single submitter clinical testing
GeneDx RCV001771921 SCV002002050 uncertain significance not provided 2020-06-24 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acids in a non-repeat region; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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