Submissions for variant NM_153676.4(USH1C):c.1770C>T (p.Ala590=)

gnomAD frequency: 0.03494  dbSNP: rs17776775

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041257	SCV000064948	benign	not specified	2009-06-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000041257	SCV000169726	benign	not specified	2013-03-05	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.
Eurofins Ntd Llc (ga)	RCV000041257	SCV000341664	benign	not specified	2016-05-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001512363	SCV000605532	benign	not provided	2023-11-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001512363	SCV001719766	benign	not provided	2023-12-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001538019	SCV001755002	benign	Usher syndrome type 1C	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001538020	SCV001755003	benign	Autosomal recessive nonsyndromic hearing loss 18A	2021-07-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001512363	SCV005323612	benign	not provided		criteria provided, single submitter	not provided