Submissions for variant NM_006306.4(SMC1A):c.412-10C>T

gnomAD frequency: 0.01511  dbSNP: rs149219651

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081386	SCV000113317	benign	not specified	2012-07-17	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081386	SCV000195017	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000531305	SCV000482664	benign	Congenital muscular hypertrophy-cerebral syndrome	2018-01-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000531305	SCV000637999	benign	Congenital muscular hypertrophy-cerebral syndrome	2025-02-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001711193	SCV001942683	benign	not provided	2018-08-15	criteria provided, single submitter	clinical testing