ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln) (rs72646291)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000594902 SCV000701714 benign not specified 2016-09-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001150364 SCV001311425 uncertain significance Corneal dystrophy 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001150365 SCV001311426 likely benign Bietti crystalline corneoretinal dystrophy 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001429168 SCV001631880 likely benign not provided 2020-11-29 criteria provided, single submitter clinical testing

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