Submissions for variant NM_000751.3(CHRND):c.862C>G (p.Gln288Glu)

gnomAD frequency: 0.00239  dbSNP: rs41265127

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180184	SCV000232576	likely benign	not specified	2015-04-17	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224625	SCV000280786	benign	not provided	2015-03-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000180184	SCV000305501	likely benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000987055	SCV000641737	benign	Lethal multiple pterygium syndrome	2024-01-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224625	SCV000693041	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	CHRND: BS2
Mendelics	RCV000987055	SCV001136244	benign	Lethal multiple pterygium syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000224625	SCV001143558	benign	not provided	2018-10-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001142817	SCV001303301	likely benign	Congenital myasthenic syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.