Submissions for variant NM_205836.3(FBXO38):c.712G>A (p.Val238Ile)

dbSNP: rs144890577

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002235065	SCV000955883	likely benign	Distal hereditary motor neuropathy type 2	2024-07-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004028854	SCV002665777	likely benign	not specified	2022-07-25	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.
GeneDx	RCV001729712	SCV005379176	uncertain significance	not provided	2023-11-01	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (PMID: 25741868)
Clinical Genetics, Academic Medical Center	RCV001729712	SCV001979227	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001729712	SCV001979645	uncertain significance	not provided		no assertion criteria provided	clinical testing