ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.4932C>T (p.Phe1644=) (rs2228557)

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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 RCV000710858 SCV000841164 benign not provided 2017-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000247000 SCV000716961 benign not specified 2017-05-09 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 RCV000291655 SCV000428061 benign Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000247000 SCV000711841 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Phe1644Phe in exon 48 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 63.69% (842/1322) of African chromosomes by the 1000 Genomes Project (Phase 3; dbSNP rs2228557).
PreventionGenetics RCV000247000 SCV000302125 benign not specified criteria provided, single submitter clinical testing

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