Submissions for variant NM_001003800.2(BICD2):c.1893C>T (p.Ile631=)

gnomAD frequency: 0.00040  dbSNP: rs141414055

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079370	SCV000773386	likely benign	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	2024-12-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000842393	SCV000984413	likely benign	not provided	2018-04-26	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.
CeGaT Center for Human Genetics Tuebingen	RCV000842393	SCV001155666	uncertain significance	not provided	2016-05-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000842393	SCV001471401	likely benign	not provided	2022-01-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002406463	SCV002719185	likely benign	Inborn genetic diseases	2019-07-11	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.