ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.10075T>C (p.Leu3359=)

dbSNP: rs2152944244
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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 RCV001447625 SCV001650695 likely benign Epileptic encephalopathy 2019-07-30 criteria provided, single submitter clinical testing

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