Submissions for variant NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile)

gnomAD frequency: 0.01414  dbSNP: rs35213384

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245152	SCV000313586	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001001485	SCV000473857	likely benign	Hereditary spherocytosis type 1	2017-04-27	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.
Invitae	RCV000967845	SCV001115266	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001485	SCV001158759	benign	Hereditary spherocytosis type 1	2023-09-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001001485	SCV002524967	benign	Hereditary spherocytosis type 1	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000967845	SCV004010778	benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	ANK1: BP4, BS1, BS2