ClinVar Miner

Submissions for variant NM_138711.6(PPARG):c.1124T>C (p.Leu375Pro)

dbSNP: rs2125285337
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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 RCV001837074 SCV002097397 likely pathogenic PPARG-related familial partial lipodystrophy 2021-01-15 criteria provided, single submitter clinical testing

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