ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.776G>A (p.Arg259His)

gnomAD frequency: 0.00024  dbSNP: rs766051613
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553703 SCV000656552 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001556490 SCV001778081 uncertain significance not provided 2019-08-30 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001556490 SCV003813755 uncertain significance not provided 2022-12-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274410 SCV001458537 benign Congenital myasthenic syndrome 2020-04-13 no assertion criteria provided clinical testing

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