Submissions for variant NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg)

dbSNP: rs564645287

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000623646	SCV000740938	likely benign	Inborn genetic diseases	2020-01-08	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.
Illumina Laboratory Services, Illumina	RCV001113652	SCV001271443	uncertain significance	Autosomal recessive distal spinal muscular atrophy 1	2017-04-28	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae	RCV001461687	SCV001665593	likely benign	Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S	2024-01-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000886775	SCV002504317	likely benign	not provided	2018-07-19	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Revvity Omics, Revvity	RCV000886775	SCV003813330	uncertain significance	not provided	2020-11-13	criteria provided, single submitter	clinical testing