Submissions for variant NM_206933.4(USH2A):c.6041A>C (p.Asn2014Thr)

gnomAD frequency: 0.00275  dbSNP: rs147883884

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041875	SCV000065571	benign	not specified	2012-01-11	criteria provided, single submitter	clinical testing	This variant is not expected to have clinical significance because it has been i dentified in 23/4552 (0.5%) control chromosomes from a broad, though clinically and racially unspecified population (dbSNP rs147883884) and the variant occurs a t an amino acid position that is poorly conserved with Thr present in most mamma ls.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756880	SCV000884844	benign	not provided	2023-11-06	criteria provided, single submitter	clinical testing
Invitae	RCV000756880	SCV001112092	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000756880	SCV001836916	likely benign	not provided	2021-01-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450863	SCV004181729	likely benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450862	SCV004181730	likely benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000041875	SCV001920088	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000041875	SCV001965653	benign	not specified		no assertion criteria provided	clinical testing