Submissions for variant NM_002470.4(MYH3):c.5457+9dup

gnomAD frequency: 0.58793  dbSNP: rs397750512

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247716	SCV000308952	benign	not specified	2016-03-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000375831	SCV000400297	likely benign	Freeman-Sheldon syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000262470	SCV000400298	likely benign	Arthrogryposis multiplex congenita	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001651169	SCV001869688	benign	not provided	2021-05-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000375831	SCV002014435	benign	Freeman-Sheldon syndrome	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001775726	SCV002014436	benign	Arthrogryposis, distal, type 2B3	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001775725	SCV002014437	benign	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001775727	SCV002014438	benign	Contractures, pterygia, and variable skeletal fusions syndrome 1B	2021-09-05	criteria provided, single submitter	clinical testing
Invitae	RCV001651169	SCV002375805	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000247716	SCV001920423	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000247716	SCV001962909	benign	not specified		no assertion criteria provided	clinical testing