Submissions for variant NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=)

gnomAD frequency: 0.41773  dbSNP: rs229592

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249707	SCV000305927	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000259957	SCV000387725	likely benign	Spherocytosis, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000317563	SCV000387726	likely benign	Elliptocytosis	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001799647	SCV000605289	benign	not provided	2023-11-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001799647	SCV002043861	benign	not provided	2021-12-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001808682	SCV002056772	benign	Hereditary spherocytosis type 2	2021-07-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001799647	SCV002407074	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001799647	SCV005219439	likely benign	not provided		criteria provided, single submitter	not provided