ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.2717-5A>T (rs1800519)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246589 SCV000302105 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391251 SCV000428092 likely benign Alport syndrome 2018-01-13 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000246589 SCV000732320 likely benign not specified 2017-10-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000991620 SCV001143234 benign not provided 2018-08-31 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV001089933 SCV001245134 uncertain significance Alport syndrome, autosomal recessive 2020-03-11 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV001089910 SCV001245143 uncertain significance Alport syndrome 3, autosomal dominant; Benign familial hematuria 2020-03-11 criteria provided, single submitter clinical testing

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