ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.4217-15T>C (rs200926310)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253035 SCV000302121 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354468 SCV000428071 uncertain significance Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415134 SCV000492748 uncertain significance Stage 5 chronic kidney disease; Hyperkalemia; Thrombocytopenia; Hypertension 2015-06-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000253035 SCV000966412 likely benign not specified 2018-02-20 criteria provided, single submitter clinical testing c.4217-15T>C in intron 44 of COL4A4: This variant is not expected to have clinic al significance because it does not alter an amino acid residue and is not locat ed within the splice consensus sequence. It has been identified in 0.28% (187/66 560) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://e xac.broadinstitute.org; dbSNP rs200926310).

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