ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.1104C>T (p.Ala368=)

gnomAD frequency: 0.02739  dbSNP: rs28398772
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 RCV000524915 SCV000632036 benign Idiopathic generalized epilepsy 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715258 SCV005284963 benign not provided criteria provided, single submitter not provided

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