Submissions for variant NM_153700.2(STRC):c.179T>C (p.Phe60Ser)

gnomAD frequency: 0.34286  dbSNP: rs2729509

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151965	SCV000200498	benign	not specified	2013-06-26	criteria provided, single submitter	clinical testing	Phe60Ser in exon 02 of STRC: This variant is not expected to have clinical signi ficance because it has been identified in ~25% of chromosomes from several popu lations by the 1000Genomes project (reported by the Deafness Variation Database: http://deafnessvariationdatabase.org; dbSNP rs143613180 ).
Mendelics	RCV000144091	SCV001139565	benign	Autosomal recessive nonsyndromic hearing loss 16	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001682842	SCV001903830	benign	not provided	2018-07-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26969326)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000151965	SCV002051218	likely benign	not specified	2021-12-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000144091	SCV002763177	likely benign	Autosomal recessive nonsyndromic hearing loss 16		criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000144091	SCV000189165	untested	Autosomal recessive nonsyndromic hearing loss 16		no assertion provided	not provided	Converted during submission to not provided.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000151965	SCV001744700	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000151965	SCV001955727	benign	not specified		no assertion criteria provided	clinical testing