ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val) (rs1799980)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155572 SCV000205274 benign not specified 2014-06-19 criteria provided, single submitter clinical testing Gly442Val in exon 09 of SCNN1B: This variant is not expected to have clinical si gnificance because it has been identified in 12.86% (565/4394) of African Americ an chromosomes from a large population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs1799980).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155572 SCV000232948 benign not specified 2014-09-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000155572 SCV000303675 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281749 SCV000395890 benign Bronchiectasis with or without elevated sweat chloride 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000336811 SCV000395891 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000397070 SCV000395892 benign Liddle syndrome 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Athena Diagnostics Inc RCV000713384 SCV000843984 benign not provided 2017-09-12 criteria provided, single submitter clinical testing

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