ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.2610C>T (p.Ser870=)

gnomAD frequency: 0.00025  dbSNP: rs145412418
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711644 SCV000292608 likely benign not provided 2020-03-07 criteria provided, single submitter clinical testing
Invitae RCV001000652 SCV001020785 likely benign Majeed syndrome 2024-01-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000652 SCV001157678 likely benign Majeed syndrome 2021-08-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262852 SCV002543571 uncertain significance Autoinflammatory syndrome 2020-10-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001711644 SCV004144744 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing LPIN2: BP4, BP7

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