ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3306C>T (p.Pro1102=)

dbSNP: rs752732736
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002217674 SCV002375885 likely benign not provided 2024-10-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479886 SCV002803196 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 2021-08-31 criteria provided, single submitter clinical testing

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