ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.912+8C>T

gnomAD frequency: 0.00001  dbSNP: rs375174267
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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 RCV001452490 SCV001656157 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-07-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274405 SCV001458532 uncertain significance Congenital myasthenic syndrome 2020-03-11 no assertion criteria provided clinical testing

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