ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.4400A>C (p.Glu1467Ala)

gnomAD frequency: 0.00172  dbSNP: rs202207552
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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 RCV001515747 SCV001723889 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001515747 SCV005229785 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004550288 SCV004767165 likely benign COL4A2-related disorder 2019-07-24 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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