ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.11838G>A (p.Lys3946=)

dbSNP: rs1319476449
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001428022 SCV001630714 likely benign Epileptic encephalopathy 2022-08-23 criteria provided, single submitter clinical testing

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