ClinVar Miner

Submissions for variant NM_005357.4(LIPE):c.551C>A (p.Ser184Ter)

gnomAD frequency: 0.00083  dbSNP: rs149927060
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000962727 SCV001109825 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center RCV003325528 SCV004031424 uncertain significance LIPE-related familial partial lipodystrophy 2023-09-05 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003325528 SCV004807160 likely pathogenic LIPE-related familial partial lipodystrophy 2024-03-26 criteria provided, single submitter clinical testing

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