ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.1059C>T (p.His353=)

dbSNP: rs544722226
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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 RCV001488356 SCV001692870 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2024-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278480 SCV001465494 uncertain significance Congenital myasthenic syndrome 2020-04-13 no assertion criteria provided clinical testing

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