ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.468TGA[1] (p.Asp158del)

dbSNP: rs1595902555
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000820506 SCV000961222 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2021-08-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830802 SCV002089161 uncertain significance Congenital myasthenic syndrome 2020-02-26 no assertion criteria provided clinical testing

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