ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.279C>T (p.Asn93=)

dbSNP: rs901210204
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001397962 SCV001599724 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2023-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279261 SCV001466344 uncertain significance Congenital myasthenic syndrome 2020-04-14 no assertion criteria provided clinical testing

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