Submissions for variant NM_020778.5(ALPK3):c.123C>T (p.Leu41=)

gnomAD frequency: 0.00345  dbSNP: rs78638069

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704700	SCV000714085	likely benign	not provided	2021-03-13	criteria provided, single submitter	clinical testing
Invitae	RCV001704700	SCV002335858	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002384310	SCV002674255	benign	Cardiovascular phenotype	2018-12-31	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	RCV004543404	SCV004784316	benign	ALPK3-related disorder	2019-08-28	criteria provided, single submitter	clinical testing	This variant is classified as 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	RCV000614803	SCV001918427	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001704700	SCV001968436	likely benign	not provided		no assertion criteria provided	clinical testing