Submissions for variant NM_000037.4(ANK1):c.5544+91C>T

gnomAD frequency: 0.00849  dbSNP: rs72638959

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253589	SCV000313599	benign	not specified		criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000253589	SCV000538283	likely benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 86/13006=0.6%
Mendelics	RCV000988051	SCV001137611	likely benign	Hereditary spherocytosis type 1	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000988051	SCV001159527	benign	Hereditary spherocytosis type 1	2024-10-02	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001508609	SCV001714874	uncertain significance	not provided	2023-05-17	criteria provided, single submitter	clinical testing	BS1, BP4, BP7
CeGaT Center for Human Genetics Tuebingen	RCV001508609	SCV004010777	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	ANK1: BS2