ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.4953C>T (p.Arg1651=)

gnomAD frequency: 0.00003  dbSNP: rs773440120
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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 RCV000943800 SCV001089754 likely benign not provided 2023-10-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738094 SCV005352994 likely benign COL4A2-related disorder 2024-06-06 no assertion criteria provided 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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