ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.12826G>A (p.Asp4276Asn)

dbSNP: rs2078190891
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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 RCV001298551 SCV001487610 uncertain significance Epileptic encephalopathy 2021-08-26 criteria provided, single submitter clinical testing

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