ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.1543-17C>T

gnomAD frequency: 0.00731  dbSNP: rs35074083
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249045 SCV000303677 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710222 SCV000615134 likely benign not provided 2017-09-12 criteria provided, single submitter clinical testing
GeneDx RCV000710222 SCV001825691 likely benign not provided 2021-01-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15661075)
Labcorp Genetics (formerly Invitae), Labcorp RCV000710222 SCV003443593 benign not provided 2024-01-22 criteria provided, single submitter clinical testing

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