ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.912+20A>G

gnomAD frequency: 0.00002  dbSNP: rs763929869
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613687 SCV000724443 likely benign not specified 2017-11-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV003767639 SCV004573413 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2023-06-14 criteria provided, single submitter clinical testing

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