Submissions for variant NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=)

gnomAD frequency: 0.00041  dbSNP: rs35902379

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000732303	SCV000533152	likely benign	not provided	2018-06-08	criteria provided, single submitter	clinical testing
Invitae	RCV001080112	SCV000631763	benign	Alstrom syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000732303	SCV000860236	uncertain significance	not provided	2018-03-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000424426	SCV001363028	likely benign	not specified	2019-11-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000732303	SCV002544051	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	ALMS1: BP4, BP7
Ambry Genetics	RCV002379371	SCV002674122	likely benign	Cardiovascular phenotype	2020-02-14	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.