Submissions for variant NM_153700.2(STRC):c.3360T>C (p.Cys1120=)

gnomAD frequency: 0.01920  dbSNP: rs56385906

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000219804	SCV000269844	benign	not specified	2013-06-26	criteria provided, single submitter	clinical testing	Cys1120Cys in Exon 14 of STRC: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, has been identified in 7.6% (10/132) of chromoso mes from an European American (CEU) population in 1000Genomes project (reported in Deafness Variation Database: http://deafnessvariationdatabase.org; dbSNP rs56 385906).
GeneDx	RCV001574290	SCV001801086	likely benign	not provided	2019-10-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467675	SCV002763110	likely benign	Autosomal recessive nonsyndromic hearing loss 16		criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001574290	SCV005214598	likely benign	not provided		criteria provided, single submitter	not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000219804	SCV001957697	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001574290	SCV001968613	likely benign	not provided		no assertion criteria provided	clinical testing