ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.17T>C (p.Ile6Thr) (rs16823264)

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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 RCV000710833 SCV000841138 benign not provided 2017-09-12 criteria provided, single submitter clinical testing
GeneDx RCV000248898 SCV000717949 benign not specified 2017-10-05 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 RCV000286526 SCV000428127 benign Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000248898 SCV000711825 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Ile6Thr in exon 2 of COL4A4: This variant is not expected to have clinical sig nificance because it has been identified in 37.44% (495/1322) of African chromos omes by the 1000 Genomes Project (Phase 3; dbSNP rs16823264).
PreventionGenetics RCV000248898 SCV000302097 benign not specified criteria provided, single submitter clinical testing

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