Submissions for variant NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp)

gnomAD frequency: 0.00499  dbSNP: rs142775522

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243484	SCV000309438	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000363285	SCV000349198	likely benign	Elliptocytosis 2	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812724	SCV000884595	likely benign	not provided	2022-03-31	criteria provided, single submitter	clinical testing
Invitae	RCV001812724	SCV003253411	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001812724	SCV004125035	benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	SPTA1: BP4, BS1, BS2
Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris	RCV000655920	SCV000777869	likely pathogenic	Familial hemolytic anemia	2018-02-27	flagged submission	clinical testing