ClinVar Miner

Submissions for variant NM_005357.4(LIPE):c.280G>A (p.Ala94Thr)

gnomAD frequency: 0.00160  dbSNP: rs145456377
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000893771 SCV001037727 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818690 SCV002065967 benign not specified 2017-11-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000893771 SCV004139651 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing LIPE: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000893771 SCV005208512 likely benign not provided criteria provided, single submitter not provided

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