ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.913-15A>G

gnomAD frequency: 0.00221  dbSNP: rs185204384
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248932 SCV000310830 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000841943 SCV000983934 likely benign not provided 2018-04-13 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 RCV002058179 SCV002409223 benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2025-01-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000841943 SCV005224354 likely benign not provided criteria provided, single submitter not provided

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