ClinVar Miner

Submissions for variant NM_005357.4(LIPE):c.913C>T (p.Arg305Cys)

gnomAD frequency: 0.00001  dbSNP: rs373430897
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001294211 SCV001483053 uncertain significance LIPE-related familial partial lipodystrophy 2019-08-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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