ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1534C>T (p.Pro512Ser)

gnomAD frequency: 0.00042  dbSNP: rs578161281
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002200771 SCV002489115 benign not provided 2024-08-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545236 SCV004776828 likely benign COL4A1-related disorder 2021-10-19 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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