ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.462C>A (p.Thr154=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003797239 SCV004588107 likely benign Martsolf syndrome; Warburg micro syndrome 2 2024-05-06 criteria provided, single submitter clinical testing

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