ClinVar Miner

Submissions for variant NM_138711.6(PPARG):c.1262T>C (p.Leu421Pro)

dbSNP: rs1553653993
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501839 SCV000596566 likely pathogenic PPARG-related familial partial lipodystrophy 2016-12-27 criteria provided, single submitter clinical testing

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