ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.688-8G>T

gnomAD frequency: 0.00013  dbSNP: rs748843785
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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 RCV000312906 SCV000428153 uncertain significance Alport syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000944959 SCV001090942 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000944959 SCV001896134 benign not provided 2020-02-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003983021 SCV004796320 likely benign COL4A3-related disorder 2019-04-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000312906 SCV001454005 benign Alport syndrome 2020-09-16 no assertion criteria provided clinical testing

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