Submissions for variant NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly)

gnomAD frequency: 0.00056  dbSNP: rs141683210

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000516584	SCV000615468	benign	not specified	2016-09-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000585497	SCV000692716	likely benign	not provided	2025-03-01	criteria provided, single submitter	clinical testing	SPTBN2: BP4, BS2
Labcorp Genetics (formerly Invitae), Labcorp	RCV000585497	SCV001068712	likely benign	not provided	2024-10-23	criteria provided, single submitter	clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV002244993	SCV002512503	uncertain significance	Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14	2021-08-27	criteria provided, single submitter	clinical testing	ACMG classification criteria: BP4 supporting
Ambry Genetics	RCV004023525	SCV004957122	likely benign	Inborn genetic diseases	2022-02-14	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.
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV002244993	SCV006054093	likely benign	Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14	2021-07-30	criteria provided, single submitter	research