ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.2008G>A (p.Val670Ile) (rs34236495)

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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 RCV000246435 SCV000302099 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401997 SCV000428109 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000246435 SCV000723260 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.
Athena Diagnostics Inc RCV000710836 SCV000841141 benign not provided 2018-02-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000246435 SCV000967069 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Val670Ile in exon 26 of COL4A4: This variant is not expected to have clinical significance because it has been identified in 5.39% (526/9750) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs34236495).
Invitae RCV000710836 SCV001111963 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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