Submissions for variant NM_000257.4(MYH7):c.1408-42del

gnomAD frequency: 0.01363  dbSNP: rs45490796

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000168852	SCV000052980	benign	not specified	2016-06-01	criteria provided, single submitter	clinical testing	Variant summary: The MYH7 c.1408-42delC variant involves the alteration of a non-conserved deep intronic nucleotide. One in silico tool (Mutation Taster) predicts a benign outcome for this variant. In addition, 5/5 splicing algorithms predict no significant change to normal splicing. This variant was found in 470/119028 control chromosomes (including 6 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.041806 (425/10166). This frequency is about 42 times greater than the estimated maximal expected allele frequency of a pathogenic MYH7 variant (0.0010005), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, one clinical diagnostic laboratory classified this variant as likely benign. Taken together, this variant is classified as benign.
PreventionGenetics, part of Exact Sciences	RCV000168852	SCV000303209	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV001577313	SCV001804666	likely benign	not provided	2018-07-07	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000168852	SCV001955642	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000168852	SCV001968760	benign	not specified		no assertion criteria provided	clinical testing