ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.2164C>T (p.Pro722Ser)

gnomAD frequency: 0.00001  dbSNP: rs748867663
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001573721 SCV005777815 likely benign not provided 2024-03-18 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573721 SCV001800007 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573721 SCV001973632 uncertain significance not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003921240 SCV004735917 likely benign COL4A6-related disorder 2020-06-05 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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