Submissions for variant NM_001378454.1(ALMS1):c.7743C>T (p.Ser2581=)

gnomAD frequency: 0.00001  dbSNP: rs370740871

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000616625	SCV000715208	likely benign	not specified	2017-01-23	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl	RCV000666213	SCV000790470	likely benign	Alstrom syndrome	2017-03-22	criteria provided, single submitter	clinical testing
Invitae	RCV000666213	SCV002437410	likely benign	Alstrom syndrome	2023-12-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002404624	SCV002672150	likely benign	Cardiovascular phenotype	2018-12-26	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.