Submissions for variant NM_001378454.1(ALMS1):c.2730C>T (p.His910=)

gnomAD frequency: 0.00245  dbSNP: rs189923349

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000205703	SCV000261786	benign	Alstrom syndrome	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001697277	SCV000532408	likely benign	not provided	2020-09-17	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000429728	SCV001448425	likely benign	not specified	2020-11-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002433912	SCV002741600	likely benign	Cardiovascular phenotype	2019-01-31	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.
CeGaT Center for Human Genetics Tuebingen	RCV001697277	SCV004700840	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	ALMS1: BP4, BP7
Genetic Services Laboratory, University of Chicago	RCV000429728	SCV003839582	likely benign	not specified	2022-11-06	no assertion criteria provided	clinical testing