ClinVar Miner

Submissions for variant NM_000747.3(CHRNB1):c.6C>T (p.Thr2=)

gnomAD frequency: 0.00012  dbSNP: rs755368307
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001470549 SCV001674645 likely benign Congenital myasthenic syndrome 2A 2023-10-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706194 SCV005218628 likely benign not provided criteria provided, single submitter not provided

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