Submissions for variant NM_178335.3(CCDC50):c.883G>T (p.Asp295Tyr)

gnomAD frequency: 0.00089  dbSNP: rs75123867

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150261	SCV000197269	benign	not specified	2015-02-02	criteria provided, single submitter	clinical testing	p.Asp295Tyr in exon 06 of CCDC50: This variant is not expected to have clinical significance because it has been identified in 3.5% (296/8576) of East Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs75123867).
GeneDx	RCV000838596	SCV000980469	benign	not provided	2018-03-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000838596	SCV001051978	benign	not provided	2025-01-21	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002505142	SCV002805947	benign	Autosomal dominant nonsyndromic hearing loss 44	2021-09-07	criteria provided, single submitter	clinical testing