ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3750G>A (p.Pro1250=)

gnomAD frequency: 0.00016  dbSNP: rs372343245
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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 RCV000906017 SCV001050633 benign not provided 2024-04-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000906017 SCV001501498 likely benign not provided 2020-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487975 SCV002800423 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 2021-11-17 criteria provided, single submitter clinical testing

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