ClinVar Miner

Submissions for variant NM_001039.4(SCNN1G):c.1569+10G>A

gnomAD frequency: 0.00344  dbSNP: rs13306659
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000319801 SCV000395742 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000376818 SCV000395743 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.
Athena Diagnostics Inc RCV000713396 SCV000843997 benign not provided 2018-02-07 criteria provided, single submitter clinical testing
Invitae RCV000713396 SCV001028678 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000713396 SCV001893666 benign not provided 2021-05-24 criteria provided, single submitter clinical testing

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