ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.4716C>T (p.Ser1572=)

gnomAD frequency: 0.00007  dbSNP: rs200290773
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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 RCV002166298 SCV002479660 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500350 SCV002806517 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 2021-08-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004741253 SCV005362671 likely benign COL4A1-related disorder 2024-08-03 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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