Submissions for variant NM_178335.3(CCDC50):c.651T>C (p.His217=)

gnomAD frequency: 0.49117  dbSNP: rs2028572

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041446	SCV000065141	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	"His217His in Exon 06 of CCDC50: 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 39.5% (2776/7020) o f European American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2028572)."
PreventionGenetics, part of Exact Sciences	RCV000041446	SCV000316623	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000041446	SCV000716943	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	RCV001554843	SCV001776159	benign	Autosomal dominant nonsyndromic hearing loss 44	2021-07-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054819	SCV002379426	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002054819	SCV005298325	benign	not provided		criteria provided, single submitter	not provided