ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.13314AGA[2] (p.Glu4441del)

dbSNP: rs3217346
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001511880 SCV001719199 benign Epileptic encephalopathy 2025-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001655745 SCV001870306 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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