ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.7463G>T (p.Arg2488Leu)

dbSNP: rs1323254560
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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 RCV001307918 SCV001497346 uncertain significance Epileptic encephalopathy 2021-09-01 criteria provided, single submitter clinical testing

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