ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.3258G>A (p.Gly1086=) (rs147085074)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000248366 SCV000861026 benign not specified 2018-05-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355980 SCV000428177 uncertain significance Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000248366 SCV000711814 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Gly1086Gly in exon 38 of COL4A3: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.54% (361/66654) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs147085074).
PreventionGenetics RCV000248366 SCV000302071 likely benign not specified criteria provided, single submitter clinical testing

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