Submissions for variant NM_153700.2(STRC):c.4842C>T (p.Phe1614=)

gnomAD frequency: 0.29444  dbSNP: rs3097773

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154658	SCV000204334	benign	not specified	2013-06-26	criteria provided, single submitter	clinical testing	Phe1614Phe in Exon 25 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 68% (2942/4400) of Africa n American chromosomes from a broad population by the NHBLI Exon sequencing proj ect (http://evs.gs.washington.edu/EVS/; dbSNP rs3097773).
GeneDx	RCV000154658	SCV000717218	benign	not specified	2017-05-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab	RCV002467606	SCV002762899	benign	Autosomal recessive nonsyndromic hearing loss 16		criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004714523	SCV005290514	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000154658	SCV001743779	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000154658	SCV001954640	benign	not specified		no assertion criteria provided	clinical testing