ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.812-7_812-6del

dbSNP: rs35396665
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224847 SCV000281084 benign not provided 2015-08-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000224847 SCV002562984 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing RAB3GAP2: BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV002519758 SCV002971600 benign Martsolf syndrome; Warburg micro syndrome 2 2024-11-11 criteria provided, single submitter clinical testing

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