Submissions for variant NM_000037.4(ANK1):c.315C>T (p.Asn105=)

gnomAD frequency: 0.23757  dbSNP: rs2304871

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000241569	SCV000313585	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000600895	SCV000473912	benign	Hereditary spherocytosis type 1	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000600895	SCV000602482	benign	Hereditary spherocytosis type 1	2023-11-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000600895	SCV000743967	benign	Hereditary spherocytosis type 1	2017-07-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001158832	SCV001320493	benign	Spherocytosis	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome-Nilou Lab	RCV000600895	SCV001775132	benign	Hereditary spherocytosis type 1	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001689900	SCV001908652	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Invitae	RCV001689900	SCV002482527	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000600895	SCV000734608	benign	Hereditary spherocytosis type 1		no assertion criteria provided	clinical testing