ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.3135C>T (p.Pro1045=)

gnomAD frequency: 0.00016  dbSNP: rs187735087
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002157219 SCV002334899 benign not provided 2023-12-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002157219 SCV004135642 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing COL4A2: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences RCV004738508 SCV005352847 likely benign COL4A2-related disorder 2024-08-05 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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