Submissions for variant NM_018238.4(AGK):c.29A>G (p.Asn10Ser)

gnomAD frequency: 0.00161  dbSNP: rs35269563

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000196977	SCV000251107	likely benign	not provided	2020-12-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054319	SCV002431575	likely benign	Sengers syndrome; Cataract 38	2025-01-06	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000196977	SCV003820537	uncertain significance	not provided	2020-02-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004020387	SCV004870531	likely benign	Inborn genetic diseases	2021-07-16	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.
Breakthrough Genomics, Breakthrough Genomics	RCV000196977	SCV005226837	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004541261	SCV004771217	likely benign	AGK-related disorder	2020-02-07	no assertion criteria provided	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).