ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) (rs13027659)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246929 SCV000302108 benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000246929 SCV000713817 benign not specified 2018-01-20 criteria provided, single submitter clinical testing p.Gly999Glu in exon 33 of COL4A4: This variant is not expected to have clinical signficance because it has been identified in 1.9% (2548/12662) of European chro mosomes, including 27 homozygote individuals, by the the Genome Aggregation Data base (gnomAD,; dbSNP rs13027659). ACMG/AMP Cri teria applied: PP3; BA1.
GeneDx RCV000246929 SCV000730628 likely benign not specified 2017-09-07 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.
Athena Diagnostics Inc RCV000710843 SCV000841148 benign not provided 2017-10-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001142711 SCV001303184 uncertain significance Alport syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV000710843 SCV001723758 benign not provided 2020-12-05 criteria provided, single submitter clinical testing

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