Submissions for variant NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr)

gnomAD frequency: 0.00742  dbSNP: rs59172778

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202885	SCV000258256	benign	not specified	2015-06-08	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224891	SCV000280824	benign	not provided	2015-11-24	criteria provided, single submitter	clinical testing
Invitae	RCV000224891	SCV001121924	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000224891	SCV001950571	benign	not provided	2021-05-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 9580661, 20981092, 8841184, 27884173, 12589089, 28492530, 29191167)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000202885	SCV002103405	likely benign	not specified	2022-02-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003914824	SCV004734238	benign	KCNJ1-related disorder	2019-09-26	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).
Molecular Genetics, Royal Melbourne Hospital	RCV000009728	SCV004812382	benign	Bartter disease type 2	2023-05-04	criteria provided, single submitter	clinical testing	European Non-Finnish population allele frequency is 1.112% (rs59172778, 1491/129090 alleles, 14 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.5.1, this variant is classified as BENIGN. Following criteria are met: BA1
OMIM	RCV000009728	SCV000029949	pathogenic	Bartter disease type 2	1996-10-01	no assertion criteria provided	literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000224891	SCV001932041	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000202885	SCV001973324	benign	not specified		no assertion criteria provided	clinical testing