ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.828G>A (p.Thr276=)

gnomAD frequency: 0.00004  dbSNP: rs2234932
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 RCV000654357 SCV000776247 benign Autosomal dominant nocturnal frontal lobe epilepsy 2025-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001672920 SCV001891137 benign not provided 2019-01-29 criteria provided, single submitter clinical testing

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