ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.2244+1G>T

dbSNP: rs281874688
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001588821 SCV001824757 pathogenic not provided 2020-12-16 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 20378821, 25525159)
Fulgent Genetics, Fulgent Genetics RCV002476999 SCV002787586 pathogenic X-linked Alport syndrome 2021-11-03 criteria provided, single submitter clinical testing

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