ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.948C>T (p.Ala316=)

gnomAD frequency: 0.00006  dbSNP: rs374676714
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 RCV000874902 SCV001017136 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2024-07-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274404 SCV001458531 uncertain significance Congenital myasthenic syndrome 2020-04-13 no assertion criteria provided clinical testing

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