ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1092A>T (p.Pro364=)

dbSNP: rs141208458
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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 RCV000933205 SCV001078899 likely benign not provided 2022-10-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005004469 SCV005632457 uncertain significance 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 2023-12-27 criteria provided, single submitter clinical testing

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