Submissions for variant NM_213720.3(CHCHD10):c.330G>A (p.Leu110=)

gnomAD frequency: 0.00227  dbSNP: rs138183274

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000550834	SCV000653014	benign	Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance	2025-01-12	criteria provided, single submitter	clinical testing
GeneDx	RCV001683583	SCV001899396	benign	not provided	2019-01-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27095681)
Ambry Genetics	RCV002324041	SCV002606554	likely benign	Inborn genetic diseases	2019-07-11	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.
Breakthrough Genomics, Breakthrough Genomics	RCV001683583	SCV005277026	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003925684	SCV004747448	benign	CHCHD10-related disorder	2019-07-08	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).