ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.3486A>G (p.Pro1162=) (rs2229815)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710846 SCV000841151 benign not provided 2018-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000249231 SCV000723262 benign not specified 2017-10-09 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.
Illumina Clinical Services Laboratory,Illumina RCV000282294 SCV000428084 likely benign Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000249231 SCV000967071 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Pro1162Pro in exon 37 of COL4A4: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 5.65% (554/9802) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs2229815).
PreventionGenetics RCV000249231 SCV000302111 benign not specified criteria provided, single submitter clinical testing

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