ClinVar Miner

Submissions for variant NM_001114633.2(PLA2G4B):c.2305C>T (p.Arg769Cys)

gnomAD frequency: 0.00199  dbSNP: rs150600168
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262947 SCV001441006 uncertain significance Neurodevelopmental disorder 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.
Breakthrough Genomics, Breakthrough Genomics RCV004692375 SCV005193724 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003928805 SCV004741464 benign JMJD7-PLA2G4B-related disorder 2019-02-22 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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