Submissions for variant NM_153676.4(USH1C):c.1740T>C (p.Pro580=)

gnomAD frequency: 0.00070  dbSNP: rs200085788

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041256	SCV000064947	benign	not specified	2017-08-30	criteria provided, single submitter	clinical testing	p.Pro580Pro in exon 18 of USH1C: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence and has been identified in 1.2% (164/13838) of East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad .broadinstitute.org; dbSNP rs200085788).
GeneDx	RCV000829273	SCV000970989	likely benign	not provided	2021-03-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000829273	SCV001078620	benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000829273	SCV001474076	benign	not provided	2020-01-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000829273	SCV005093303	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	USH1C: BP4, BP7, BS1