Submissions for variant NM_000037.4(ANK1):c.997G>A (p.Asp333Asn)

gnomAD frequency: 0.00119  dbSNP: rs147608206

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001163344	SCV001325370	uncertain significance	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae	RCV002067984	SCV002490385	likely benign	not provided	2024-01-15	criteria provided, single submitter	clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV002252320	SCV002523782	uncertain significance	See cases	2019-05-24	criteria provided, single submitter	clinical testing	ACMG classification criteria: PM2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001163344	SCV003799741	likely benign	Hereditary spherocytosis type 1	2022-09-14	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV002067984	SCV004224170	uncertain significance	not provided	2022-08-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003908415	SCV004723373	likely benign	ANK1-related condition	2021-02-24	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).