Submissions for variant NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=)

gnomAD frequency: 0.00096  dbSNP: rs139926138

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724480	SCV000226266	uncertain significance	not provided	2015-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000384551	SCV000373810	uncertain significance	Autosomal recessive distal spinal muscular atrophy 1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000724480	SCV000526425	benign	not provided	2019-05-20	criteria provided, single submitter	clinical testing
Invitae	RCV001085294	SCV000642351	benign	Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S	2024-01-31	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001174195	SCV001337321	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724480	SCV002497149	likely benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	IGHMBP2: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000724480	SCV004562122	likely benign	not provided	2023-11-07	criteria provided, single submitter	clinical testing