Submissions for variant NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=)

gnomAD frequency: 0.00003  dbSNP: rs199603690

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000664649	SCV000788649	uncertain significance	Alstrom syndrome	2017-01-31	criteria provided, single submitter	clinical testing
Invitae	RCV000664649	SCV001013258	likely benign	Alstrom syndrome	2024-01-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000664649	SCV001781464	uncertain significance	Alstrom syndrome	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001576145	SCV001803274	likely benign	not provided	2018-11-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002360690	SCV002660634	likely benign	Cardiovascular phenotype	2020-11-22	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.
CeGaT Center for Human Genetics Tuebingen	RCV001576145	SCV004155013	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	ALMS1: BP4, BP7
Natera, Inc.	RCV000664649	SCV001455033	likely benign	Alstrom syndrome	2020-09-16	no assertion criteria provided	clinical testing