Submissions for variant NM_000166.6(GJB1):c.688C>T (p.Arg230Cys)

gnomAD frequency: 0.00014  dbSNP: rs587781246

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000213596	SCV000279258	benign	not specified	2018-02-19	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	RCV000551749	SCV000658919	likely benign	Charcot-Marie-Tooth Neuropathy X	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362778	SCV002667032	likely benign	Inborn genetic diseases	2020-05-27	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV002483279	SCV002804179	likely benign	Charcot-Marie-Tooth disease X-linked dominant 1	2022-04-12	criteria provided, single submitter	clinical testing
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust	RCV000144863	SCV000172134	pathogenic	Charcot-Marie-Tooth disease	2013-11-01	no assertion criteria provided	research	pathogenic in males not in females
Natera, Inc.	RCV000144863	SCV002087253	likely benign	Charcot-Marie-Tooth disease	2020-01-22	no assertion criteria provided	clinical testing