ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.4185C>T (p.Val1395=)

gnomAD frequency: 0.00009  dbSNP: rs761955179
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001466620 SCV001670625 likely benign RYR1-Related Disorders 2022-10-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000865265 SCV003812509 uncertain significance not provided 2019-07-08 criteria provided, single submitter clinical testing

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