Submissions for variant NM_178335.3(CCDC50):c.995T>C (p.Met332Thr)

gnomAD frequency: 0.58148  dbSNP: rs293813

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041451	SCV000065146	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Met332Thr in Exon 07 of CCDC50: This variant is not expected to have clinical si gnificance because it has been identified in 46.1% (3235/7020) of European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs293813).
PreventionGenetics, part of Exact Sciences	RCV000041451	SCV000316628	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000041451	SCV000716947	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	RCV001554848	SCV001776164	benign	Autosomal dominant nonsyndromic hearing loss 44	2021-07-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054824	SCV002474121	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002054824	SCV005298334	benign	not provided		criteria provided, single submitter	not provided