ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1605C>T (p.Phe535=)

dbSNP: rs139448202
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV002249714 SCV001269316 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001111733 SCV001269317 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV002069804 SCV002432898 likely benign not provided 2021-12-10 criteria provided, single submitter clinical testing

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