Submissions for variant NM_022437.3(ABCG8):c.1093A>G (p.Thr365Ala)

gnomAD frequency: 0.00093  dbSNP: rs114404835

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000296238	SCV000339864	uncertain significance	not provided	2017-07-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000296238	SCV001728139	benign	not provided	2024-10-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000296238	SCV004146005	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	ABCG8: BP4
Mayo Clinic Laboratories, Mayo Clinic	RCV000296238	SCV004224888	uncertain significance	not provided	2023-03-01	criteria provided, single submitter	clinical testing	BP4
Ambry Genetics	RCV004984777	SCV005473860	likely benign	Cardiovascular phenotype	2024-08-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV003909985	SCV004722312	likely benign	ABCG8-related disorder	2022-03-17	no assertion criteria provided	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).