ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.102G>A (p.Glu34=)

dbSNP: rs2076432091
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002537839 SCV003016001 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-08-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279265 SCV001466348 uncertain significance Congenital myasthenic syndrome 2020-04-14 no assertion criteria provided clinical testing

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