ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.10921A>G (p.Met3641Val)

gnomAD frequency: 0.00168  dbSNP: rs146201205
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000550009 SCV000634760 benign Epileptic encephalopathy 2024-10-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003326454 SCV004033370 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing RYR3: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003326454 SCV005295619 benign not provided criteria provided, single submitter not provided

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