ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.3G>A (p.Met1Ile)

dbSNP: rs1381192866
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706793 SCV001934292 uncertain significance Warburg micro syndrome 2 2020-11-03 criteria provided, single submitter clinical testing Despite strong evidence for its pathogenicity, this variant has to be classified as of unknown significance, according to the ACMG-criteria (Richards et al., 2015)

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