ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu)

gnomAD frequency: 0.00004  dbSNP: rs372750171
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002074421 SCV002435600 likely benign not provided 2024-10-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002074421 SCV003828151 uncertain significance not provided 2023-08-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005006092 SCV005632912 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 2024-02-12 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849704 SCV002106686 likely pathogenic HANAC-like syndrome 2019-09-11 no assertion criteria provided literature only

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