Submissions for variant NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala)

gnomAD frequency: 0.75229  dbSNP: rs2228576

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151811	SCV000200278	benign	not specified	2013-06-11	criteria provided, single submitter	clinical testing	Benign based on allele frequency. A single GWAS study comparing nenoates with s mall intestinal atresia to controls. The variant is reported to correlate with blood pressure (OR 0.7, 95% CI 0.4-1.3). This is insufficient to warrant inclus ion on a Mendelian report
Eurofins Ntd Llc (ga)	RCV000151811	SCV000225812	benign	not specified	2015-03-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000151811	SCV000306090	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000295920	SCV000380715	benign	Pseudohypoaldosteronism, type IB1, autosomal recessive	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000325126	SCV000380716	benign	Bronchiectasis with or without elevated sweat chloride 2	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV001668303	SCV001882580	benign	not provided	2018-09-04	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19462466, 10523338, 15069064, 16249274)
Genome-Nilou Lab	RCV001807094	SCV002054632	benign	Liddle syndrome 3	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000325126	SCV002054633	benign	Bronchiectasis with or without elevated sweat chloride 2	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000295920	SCV002054634	benign	Pseudohypoaldosteronism, type IB1, autosomal recessive	2021-07-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001668303	SCV002407553	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001668303	SCV005236822	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000151811	SCV001741914	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000151811	SCV001952690	benign	not specified		no assertion criteria provided	clinical testing