Submissions for variant NM_001378454.1(ALMS1):c.3942A>C (p.Ser1314=)

gnomAD frequency: 0.00065  dbSNP: rs186449817

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001080877	SCV000290084	likely benign	Alstrom syndrome	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000225835	SCV000535489	likely benign	not provided	2020-12-30	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000439387	SCV000859129	likely benign	not specified	2018-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000225835	SCV001152350	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	ALMS1: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000439387	SCV002572378	likely benign	not specified	2022-08-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002356302	SCV002621847	likely benign	Cardiovascular phenotype	2019-01-17	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.
Clinical Genetics, Academic Medical Center	RCV000439387	SCV001924452	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000439387	SCV001927524	benign	not specified		no assertion criteria provided	clinical testing