Submissions for variant NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val)

gnomAD frequency: 0.00150  dbSNP: rs148337824

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001091049	SCV000329536	uncertain significance	not provided	2022-06-15	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 22995991, 9887280, 30690801, 29396846, 34426522)
CeGaT Center for Human Genetics Tuebingen	RCV001091049	SCV001246886	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	SPTB: PM5, BP4, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001091049	SCV001477831	uncertain significance	not provided	2019-09-04	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001329814	SCV001521351	uncertain significance	Elliptocytosis 3	2020-03-09	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp	RCV001091049	SCV002489139	likely benign	not provided	2024-12-12	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001091049	SCV004226526	uncertain significance	not provided	2022-03-04	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001091049	SCV001932608	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001091049	SCV001963861	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003947824	SCV004765895	likely benign	SPTB-related disorder	2022-12-21	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).