Submissions for variant NM_020778.5(ALPK3):c.2367T>C (p.Thr789=)

gnomAD frequency: 0.00290  dbSNP: rs55727747

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000950243	SCV000531881	likely benign	not provided	2020-10-21	criteria provided, single submitter	clinical testing
Invitae	RCV000950243	SCV001096533	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000950243	SCV002063440	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	ALPK3: BP4, BP7, BS2
Ambry Genetics	RCV002436337	SCV002751348	benign	Cardiovascular phenotype	2019-01-25	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences	RCV004533097	SCV004732408	likely benign	ALPK3-related disorder	2019-02-21	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	RCV000425056	SCV001917450	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000950243	SCV001976111	likely benign	not provided		no assertion criteria provided	clinical testing