ClinVar Miner

Submissions for variant NM_012233.3(RAB3GAP1):c.2800C>G (p.Pro934Ala)

dbSNP: rs77535003
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000952004 SCV001098469 benign not provided 2023-12-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001132506 SCV001292167 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000952004 SCV001832095 benign not provided 2020-03-06 criteria provided, single submitter clinical testing

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