ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3216G>A (p.Ala1072=)

gnomAD frequency: 0.00004  dbSNP: rs188620231
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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 RCV002196760 SCV002349547 likely benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498169 SCV002807906 likely benign Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 2022-02-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543715 SCV004782628 likely benign COL4A1-related disorder 2019-08-27 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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