ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.7041G>A (p.Ser2347=)

gnomAD frequency: 0.00005  dbSNP: rs372903924
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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 RCV000794980 SCV000934418 likely benign Epileptic encephalopathy 2022-08-09 criteria provided, single submitter clinical testing

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