Submissions for variant NM_001376.5(DYNC1H1):c.5248G>A (p.Val1750Met)

gnomAD frequency: 0.00004  dbSNP: rs199740595

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000552623	SCV000651652	likely benign	Charcot-Marie-Tooth disease axonal type 2O	2024-10-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001568025	SCV001791816	likely benign	not provided	2019-11-21	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 26392352, 26901136)
Ambry Genetics	RCV002341430	SCV002642497	likely benign	Inborn genetic diseases	2020-02-21	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.
CeGaT Center for Human Genetics Tuebingen	RCV001568025	SCV004811170	uncertain significance	not provided	2024-03-01	criteria provided, single submitter	clinical testing	DYNC1H1: PP2, BS1:Supporting
Mayo Clinic Laboratories, Mayo Clinic	RCV001568025	SCV005409820	uncertain significance	not provided	2023-08-21	criteria provided, single submitter	clinical testing	BS2, PP2