Submissions for variant NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr)

gnomAD frequency: 0.00392  dbSNP: rs116012780

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000434067	SCV000527691	benign	not specified	2017-09-12	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	RCV000757397	SCV000764330	benign	Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000434067	SCV000885600	benign	not specified	2018-08-09	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001174203	SCV001337329	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000757397	SCV002805504	likely benign	Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S	2021-09-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003311812	SCV004010093	benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	IGHMBP2: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV003311812	SCV005215573	likely benign	not provided		criteria provided, single submitter	not provided