Submissions for variant NM_000702.4(ATP1A2):c.2943-15C>T

gnomAD frequency: 0.00350  dbSNP: rs111510835

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000123770	SCV000167113	benign	not specified	2013-04-04	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.
Illumina Laboratory Services, Illumina	RCV000384823	SCV000349920	benign	Alternating hemiplegia of childhood 1	2018-01-13	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	RCV000290479	SCV000349921	benign	Migraine, familial hemiplegic, 2	2018-01-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055427	SCV002407158	benign	Familial hemiplegic migraine	2025-01-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000384823	SCV002539861	benign	Alternating hemiplegia of childhood 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259688	SCV002539863	benign	Developmental and epileptic encephalopathy 98	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259687	SCV002539864	benign	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000290479	SCV002539865	benign	Migraine, familial hemiplegic, 2	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498589	SCV002804611	likely benign	Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies; Developmental and epileptic encephalopathy 98	2022-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001701757	SCV005282999	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701757	SCV001927795	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000123770	SCV001958981	benign	not specified		no assertion criteria provided	clinical testing