ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.864G>A (p.Ala288=)

gnomAD frequency: 0.00010  dbSNP: rs147966227
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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 RCV000897425 SCV001041568 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2024-01-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278483 SCV001465497 likely benign Congenital myasthenic syndrome 2020-09-24 no assertion criteria provided clinical testing

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