ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.807+3C>T

gnomAD frequency: 0.00015  dbSNP: rs192723236
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000394349 SCV000333111 likely benign not specified 2015-08-10 criteria provided, single submitter clinical testing
Invitae RCV002059097 SCV002409664 benign not provided 2024-01-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502098 SCV002809663 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 2022-05-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003909920 SCV004726777 likely benign COL4A1-related condition 2022-06-10 criteria provided, single submitter 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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