Submissions for variant NM_002470.4(MYH3):c.1960-8del

dbSNP: rs3216884

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000331324	SCV000400425	likely benign	Freeman-Sheldon syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000385731	SCV000400426	likely benign	Arthrogryposis multiplex congenita	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001643002	SCV001858905	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000331324	SCV002016121	benign	Freeman-Sheldon syndrome	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001778905	SCV002016122	benign	Arthrogryposis, distal, type 2B3	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001778904	SCV002016123	benign	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001778906	SCV002016125	benign	Contractures, pterygia, and variable skeletal fusions syndrome 1B	2021-09-05	criteria provided, single submitter	clinical testing
Invitae	RCV001643002	SCV002435977	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Molecular Genetics, Royal Melbourne Hospital	RCV001778906	SCV004812820	benign	Contractures, pterygia, and variable skeletal fusions syndrome 1B	2023-05-04	criteria provided, single submitter	clinical testing	European Non-Finnish population allele frequency is 73.31% (rs767372373, 93,270/126,364 alleles, 33,886 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.1.0, this variant is classified as BENIGN. Following criteria are met: BA1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529851	SCV001744035	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001529851	SCV001918942	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001643002	SCV001928451	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529851	SCV001967321	benign	not specified		no assertion criteria provided	clinical testing