ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.2583C>T (p.Phe861=)

gnomAD frequency: 0.00057  dbSNP: rs141043192
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644773 SCV000766485 likely benign Majeed syndrome 2024-01-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263882 SCV002543569 likely benign Autoinflammatory syndrome 2019-10-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965366 SCV004781822 likely benign LPIN2-related disorder 2019-04-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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