ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.4921C>T (p.Arg1641Cys)

gnomAD frequency: 0.86593  dbSNP: rs4780144
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
Invitae RCV001521924 SCV001731345 benign Epileptic encephalopathy 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001619924 SCV001842536 benign not provided 2018-08-23 criteria provided, single submitter clinical testing

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