ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.2371C>T (p.Leu791=)

gnomAD frequency: 0.00011  dbSNP: rs373520277
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418733 SCV000526994 likely benign not specified 2016-04-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000644777 SCV000766491 likely benign Majeed syndrome 2023-12-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263686 SCV002543559 uncertain significance Autoinflammatory syndrome 2018-07-01 criteria provided, single submitter clinical testing

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