ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.1867C>T (p.Pro623Ser)

gnomAD frequency: 0.00873  dbSNP: rs143090653
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236982 SCV000292606 benign not specified 2016-10-19 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 RCV001001648 SCV000645166 benign Majeed syndrome 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001648 SCV001159160 benign Majeed syndrome 2023-10-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262851 SCV002543544 benign Autoinflammatory syndrome 2022-05-03 criteria provided, single submitter clinical testing

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