Submissions for variant NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp)

gnomAD frequency: 0.00424  dbSNP: rs41273533

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756695	SCV000884585	uncertain significance	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV000756695	SCV001115153	likely benign	not provided	2024-01-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000756695	SCV001248564	likely benign	not provided	2020-07-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001098793	SCV001255181	benign	Pyropoikilocytosis, hereditary	2017-05-09	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001098794	SCV001255182	likely benign	Hereditary spherocytosis type 3	2017-05-09	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001098795	SCV001255183	likely benign	Elliptocytosis 2	2017-05-09	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Mayo Clinic Laboratories, Mayo Clinic	RCV000756695	SCV001713900	uncertain significance	not provided	2022-11-22	criteria provided, single submitter	clinical testing	BS2, BP4_strong
PreventionGenetics, part of Exact Sciences	RCV003928258	SCV004746502	likely benign	SPTA1-related condition	2020-11-24	criteria provided, single submitter	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).