Submissions for variant NM_020778.5(ALPK3):c.3624A>G (p.Pro1208=)

gnomAD frequency: 0.00150  dbSNP: rs368494764

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000609191	SCV000718600	likely benign	not provided	2021-04-23	criteria provided, single submitter	clinical testing
Invitae	RCV000609191	SCV002454114	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002331041	SCV002630442	likely benign	Cardiovascular phenotype	2019-05-28	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003758877	SCV004564232	likely benign	Cardiomyopathy, familial hypertrophic 27	2022-12-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530771	SCV004739001	likely benign	ALPK3-related disorder	2019-05-21	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV001701055	SCV001921789	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000609191	SCV001972227	likely benign	not provided		no assertion criteria provided	clinical testing