ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.858G>A (p.Arg286=)

gnomAD frequency: 0.00006  dbSNP: rs548077620
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803591 SCV002049273 likely benign Majeed syndrome 2021-07-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264390 SCV002543595 uncertain significance Autoinflammatory syndrome 2020-08-17 criteria provided, single submitter clinical testing
Invitae RCV001803591 SCV004560499 likely benign Majeed syndrome 2023-12-02 criteria provided, single submitter clinical testing

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