Submissions for variant NM_002249.6(KCNN3):c.200AGC[20] (p.Gln75_Gln80dup)

dbSNP: rs3831942

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454403	SCV000539455	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
GeneDx	RCV000842025	SCV000984018	likely benign	not provided	2018-04-10	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics	RCV000454403	SCV002517491	benign	not specified	2022-05-04	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV003458439	SCV004183313	benign	Zimmermann-laband syndrome 3	2023-12-12	criteria provided, single submitter	research