ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.315C>T (p.Tyr105=)

gnomAD frequency: 0.00004  dbSNP: rs537373426
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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 RCV001461790 SCV001665698 likely benign Epileptic encephalopathy 2018-09-04 criteria provided, single submitter clinical testing

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