ClinVar Miner

Submissions for variant NM_012233.3(RAB3GAP1):c.1325A>G (p.Tyr442Cys)

gnomAD frequency: 0.01077  dbSNP: rs114901298
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000346473 SCV000416395 likely benign Warburg micro syndrome 1 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.
Invitae RCV000878614 SCV001021545 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000878614 SCV001145249 benign not provided 2019-06-25 criteria provided, single submitter clinical testing
GeneDx RCV000878614 SCV001937239 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118090 SCV000152422 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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