Submissions for variant NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr)

gnomAD frequency: 0.00034  dbSNP: rs138437526

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000356316	SCV000387907	uncertain significance	Elliptocytosis	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000263879	SCV000387908	uncertain significance	Spherocytosis, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001329812	SCV001521349	uncertain significance	Elliptocytosis 3	2019-09-05	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx	RCV001753775	SCV001988431	uncertain significance	not provided	2020-01-03	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Observed in an individual with congenital dyserythropoietic anemia with a second SPTB missense variant on the opposite allele (in trans) (Russo et al., 2018); This variant is associated with the following publications: (PMID: 29396846)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001753775	SCV002332119	benign	not provided	2023-06-12	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001753775	SCV002541208	uncertain significance	not provided	2021-11-09	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001753775	SCV003799688	likely benign	not provided	2022-03-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001753775	SCV004136184	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	SPTB: BP4