ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.816C>T (p.Ser272=)

gnomAD frequency: 0.11662  dbSNP: rs28408173
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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 RCV000248963 SCV000305552 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515385 SCV001723443 benign Idiopathic generalized epilepsy 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001689804 SCV001911628 benign not provided 2019-06-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689804 SCV005284930 benign not provided criteria provided, single submitter not provided

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