ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.1194C>T (p.Ser398=)

gnomAD frequency: 0.00002  dbSNP: rs1013183854
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002088932 SCV002436539 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2024-02-23 criteria provided, single submitter clinical testing

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