Submissions for variant NM_022436.3(ABCG5):c.510C>T (p.Ala170=)

gnomAD frequency: 0.00065  dbSNP: rs147061424

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000594544	SCV000707417	uncertain significance	not provided	2017-03-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001455111	SCV001658864	likely benign	Sitosterolemia	2024-01-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002341530	SCV002642543	likely benign	Cardiovascular phenotype	2019-08-13	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	RCV003962711	SCV004781738	likely benign	ABCG5-related disorder	2020-04-10	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).