ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3325+8del

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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 RCV002644023 SCV003520816 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002644023 SCV004811682 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing COL4A1: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV004538854 SCV004733038 likely benign COL4A1-related disorder 2021-08-24 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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