ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.1322-16dup

dbSNP: rs757225361
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001660911 SCV001873304 benign not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001660911 SCV003252964 benign not provided 2024-12-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004749721 SCV005349814 likely benign COL4A6-related disorder 2024-05-29 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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