Submissions for variant NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln)

gnomAD frequency: 0.14585  dbSNP: rs3817552

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117654	SCV000151886	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000117654	SCV000308886	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000292201	SCV000375285	benign	Arthrogryposis, distal, type 1B	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	RCV001668248	SCV001884410	benign	not provided	2019-09-04	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17000706, 23873045)
Genome-Nilou Lab	RCV000292201	SCV002014313	benign	Arthrogryposis, distal, type 1B	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001775586	SCV002014314	benign	Lethal congenital contracture syndrome 4	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001775587	SCV002014315	benign	Myopathy, congenital, with tremor	2021-09-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001668248	SCV005234963	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000117654	SCV001920918	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000117654	SCV001951409	benign	not specified		no assertion criteria provided	clinical testing