ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.-13C>G

gnomAD frequency: 0.00026  dbSNP: rs60069761
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000341399 SCV000382583 likely benign Porencephalic cyst 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV002248601 SCV000382584 likely benign Brain small vessel disease 1 with or without ocular anomalies 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000320399 SCV000382585 likely benign Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000341399 SCV000483405 likely benign Porencephalic cyst 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV002248601 SCV001270117 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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