ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.808-7C>A

dbSNP: rs9588116
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV002248587 SCV000382514 benign Brain small vessel disease 1 with or without ocular anomalies 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000390265 SCV000382515 benign Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV002248587 SCV000382516 benign Brain small vessel disease 1 with or without ocular anomalies 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000877857 SCV001020659 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001660623 SCV001879787 benign not specified 2020-12-23 criteria provided, single submitter clinical testing
GeneDx RCV000877857 SCV001943852 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000877857 SCV002037050 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001660623 SCV002037280 benign not specified no assertion criteria provided clinical testing

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