ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.1656A>G (p.Leu552=)

gnomAD frequency: 0.00003  dbSNP: rs935925259
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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 RCV001468647 SCV001672705 likely benign Epileptic encephalopathy 2020-03-28 criteria provided, single submitter clinical testing

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