ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser)

gnomAD frequency: 0.00083  dbSNP: rs150806357
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001572772 SCV000513507 likely benign not provided 2021-09-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28750028, 26386126)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999999 SCV000604113 likely benign Majeed syndrome 2023-10-06 criteria provided, single submitter clinical testing
Invitae RCV000999999 SCV000645167 benign Majeed syndrome 2024-01-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000999999 SCV001285470 benign Majeed syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263675 SCV002543546 benign Autoinflammatory syndrome 2021-05-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001572772 SCV004144747 benign not provided 2022-07-01 criteria provided, single submitter clinical testing LPIN2: BP4, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572772 SCV001797655 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001572772 SCV001930096 likely benign not provided no assertion criteria provided clinical testing

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