ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2542C>G (p.Gln848Glu)

gnomAD frequency: 0.00068  dbSNP: rs144207910
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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 RCV000952211 SCV001098695 likely benign not provided 2025-01-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000952211 SCV003828156 uncertain significance not provided 2023-08-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533660 SCV004756970 likely benign COL4A1-related disorder 2020-06-16 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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