ClinVar Miner

Submissions for variant NM_000336.2(SCNN1B):c.-150C>G

gnomAD frequency: 0.00022  dbSNP: rs530631658
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000400480 SCV000395812 likely benign Liddle syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311627 SCV000395813 likely benign Bronchiectasis with or without elevated sweat chloride 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368761 SCV000395814 likely benign Autosomal recessive pseudohypoaldosteronism type 1 2016-06-14 criteria provided, single submitter clinical testing

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