ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.4569G>A (p.Val1523=)

gnomAD frequency: 0.00033  dbSNP: rs115967801
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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 RCV000960811 SCV001107833 likely benign Epileptic encephalopathy 2022-07-26 criteria provided, single submitter clinical testing

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