ClinVar Miner

Submissions for variant NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) (rs5738)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250994 SCV000306099 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334111 SCV000395722 likely benign LIDDLE SYNDROME 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 Clinical Services Laboratory,Illumina RCV000388570 SCV000395723 likely benign Autosomal recessive pseudohypoaldosteronism type 1 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.
Athena Diagnostics Inc RCV000713392 SCV000843993 benign not provided 2018-05-02 criteria provided, single submitter clinical testing
Invitae RCV000713392 SCV001026690 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000388570 SCV001139974 benign Autosomal recessive pseudohypoaldosteronism type 1 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000009377 SCV000029595 pathogenic Bronchiectasis with or without elevated sweat chloride 3 2008-05-28 no assertion criteria provided literature only

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