Submissions for variant NM_002465.4(MYBPC1):c.2544T>C (p.Ile848=)

gnomAD frequency: 0.95112  dbSNP: rs7139095

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117656	SCV000151888	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000117656	SCV000308892	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000316999	SCV000375303	benign	Arthrogryposis, distal, type 1B	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	RCV001689648	SCV001907295	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000316999	SCV002014326	benign	Arthrogryposis, distal, type 1B	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001775588	SCV002014327	benign	Lethal congenital contracture syndrome 4	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001775589	SCV002014328	benign	Myopathy, congenital, with tremor	2021-09-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001689648	SCV005234980	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000117656	SCV001742258	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000117656	SCV001923847	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000117656	SCV001956091	benign	not specified		no assertion criteria provided	clinical testing