Submissions for variant NM_002470.4(MYH3):c.2926-12A>G

gnomAD frequency: 0.57289  dbSNP: rs2285473

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249395	SCV000308915	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000298909	SCV000400393	benign	Freeman-Sheldon syndrome	2018-01-12	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	RCV000370100	SCV000400394	benign	Distal arthrogryposis type 2B1	2018-01-12	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	RCV001675718	SCV001894145	benign	not provided	2019-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000298909	SCV002015863	benign	Freeman-Sheldon syndrome	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001778843	SCV002015874	benign	Arthrogryposis, distal, type 2B3	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001778842	SCV002015885	benign	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001778844	SCV002015896	benign	Contractures, pterygia, and variable skeletal fusions syndrome 1B	2021-09-05	criteria provided, single submitter	clinical testing
Invitae	RCV001675718	SCV002430525	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000249395	SCV001743965	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000249395	SCV001918191	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000249395	SCV001953203	benign	not specified		no assertion criteria provided	clinical testing