ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.4665G>A (p.Ala1555=) (rs200858199)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000245911 SCV000302079 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000245911 SCV000718877 likely benign not specified 2017-09-08 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 RCV000710825 SCV000841130 benign not provided 2018-08-22 criteria provided, single submitter clinical testing
Invitae RCV000710825 SCV001109088 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001139015 SCV001299121 benign 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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