ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp)

dbSNP: rs55797039
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177108 SCV000228935 benign not specified 2015-02-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000303655 SCV000380767 likely 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000360696 SCV000380768 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001723752 SCV001950770 benign not provided 2020-02-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20981092, 16207733, 19462466)
Fulgent Genetics, Fulgent Genetics RCV002503680 SCV002803663 benign Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 2021-08-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001723752 SCV004132433 benign not provided 2023-04-01 criteria provided, single submitter clinical testing SCNN1A: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001723752 SCV005213694 likely benign not provided criteria provided, single submitter not provided

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