ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.847C>G (p.Leu283Val)

gnomAD frequency: 0.00001  dbSNP: rs761730497
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002493481 SCV002788944 uncertain significance Congenital myasthenic syndrome 11; Fetal akinesia deformation sequence 2 2022-03-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003130238 SCV003813754 uncertain significance not provided 2021-02-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278484 SCV001465498 uncertain significance Congenital myasthenic syndrome 2020-04-13 no assertion criteria provided clinical testing

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