ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.1002C>T (p.Asn334=)

gnomAD frequency: 0.00194  dbSNP: rs41315330
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 RCV000540976 SCV000632034 benign Idiopathic generalized epilepsy 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714043 SCV005284941 benign not provided criteria provided, single submitter not provided

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