ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4502C>A (p.Pro1501Gln) (rs1553766363)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666813 SCV000791170 uncertain significance Alport syndrome, autosomal recessive 2017-05-01 criteria provided, single submitter clinical testing
GeneDx RCV001756127 SCV001986280 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing Identified with a second variant in an unknown phase in a patient with hematuric nephropathy in published literature (Morinire et al., 2014); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 24854265)

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