Submissions for variant NM_005055.5(RAPSN):c.193-15C>T

gnomAD frequency: 0.11254  dbSNP: rs45547231

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246555	SCV000310821	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000338570	SCV000372478	benign	Congenital myasthenic syndrome 11	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000371752	SCV000372479	benign	Fetal akinesia deformation sequence 1	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000246555	SCV000514370	benign	not specified	2016-03-11	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.
Genome-Nilou Lab	RCV001538026	SCV001755011	benign	Fetal akinesia deformation sequence 2	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000338570	SCV001755012	benign	Congenital myasthenic syndrome 11	2021-07-10	criteria provided, single submitter	clinical testing
Invitae	RCV002058178	SCV002430448	benign	Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11	2024-02-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001275251	SCV001460223	benign	Congenital myasthenic syndrome	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000246555	SCV001740870	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000246555	SCV001927325	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000246555	SCV001953680	benign	not specified		no assertion criteria provided	clinical testing