ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.933+14T>C (rs55928538)

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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 RCV000251317 SCV000302089 benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000251317 SCV000711885 benign not specified 2016-03-21 criteria provided, single submitter clinical testing c.933+14T>C in intron 16 of COL4A3: This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence an d has been identified in 3.58% (2388/66624) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs55928538) .
Illumina Clinical Services Laboratory,Illumina RCV001143136 SCV001303638 benign Alport 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae RCV001513059 SCV001720592 benign not provided 2020-11-21 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001527203 SCV001738149 benign Alport syndrome, autosomal recessive 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001513059 SCV001802194 likely benign not provided 2018-07-05 criteria provided, single submitter clinical testing

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