Submissions for variant NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly)

gnomAD frequency: 0.00001  dbSNP: rs563393715

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000665028	SCV000789083	uncertain significance	Alstrom syndrome	2016-12-28	criteria provided, single submitter	clinical testing
Invitae	RCV000665028	SCV001020745	benign	Alstrom syndrome	2024-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002386141	SCV002693692	likely benign	Cardiovascular phenotype	2022-06-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Natera, Inc.	RCV000665028	SCV001465806	likely benign	Alstrom syndrome	2020-05-05	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001706700	SCV001921859	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001706700	SCV001972817	likely benign	not provided		no assertion criteria provided	clinical testing