ClinVar Miner

Submissions for variant NM_016030.6(TRAPPC12):c.1892T>G (p.Leu631Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Manipal Academy of Higher Education RCV001376689 SCV001573800 uncertain significance Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome criteria provided, single submitter clinical testing

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