ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.13207C>T (p.Leu4403=)

gnomAD frequency: 0.00006  dbSNP: rs369324246
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000959714 SCV001106634 likely benign Epileptic encephalopathy 2024-10-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532253 SCV001747724 uncertain significance not provided 2021-02-01 criteria provided, single submitter clinical testing

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