ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.8067C>G (p.Thr2689=)

gnomAD frequency: 0.00001  dbSNP: rs757734841
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001474621 SCV001678792 likely benign Epileptic encephalopathy 2020-05-31 criteria provided, single submitter clinical testing

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