ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.812-6del

dbSNP: rs35396665
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000308689 SCV000354507 benign Warburg micro syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000365648 SCV000354508 benign Martsolf syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000828468 SCV000970159 benign not provided 2018-05-10 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.
Invitae RCV001515778 SCV001723928 benign Martsolf syndrome; Warburg micro syndrome 2 2024-01-31 criteria provided, single submitter clinical testing

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