ClinVar Miner

Submissions for variant NM_002666.5(PLIN1):c.1210-1del

dbSNP: rs1964333023
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001290184 SCV001478274 pathogenic PLIN1-related familial partial lipodystrophy 2020-12-17 criteria provided, single submitter clinical testing

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