ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.4803C>T (p.Pro1601=)

gnomAD frequency: 0.00001  dbSNP: rs190097900
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658680 SCV000780465 likely benign not provided 2018-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000658680 SCV002367544 likely benign not provided 2024-02-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533441 SCV004712550 likely benign COL4A1-related disorder 2022-08-17 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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