ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.2216C>A (p.Pro739His)

gnomAD frequency: 0.00037  dbSNP: rs201123438
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000946374 SCV001092503 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000946374 SCV001143247 uncertain significance not provided 2019-05-22 criteria provided, single submitter clinical testing
GeneDx RCV000946374 SCV001788413 likely benign not provided 2020-11-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913208 SCV004737247 likely benign COL4A5-related condition 2022-12-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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