ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.8724C>T (p.Ala2908=)

gnomAD frequency: 0.00011  dbSNP: rs199745365
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000550866 SCV000634900 likely benign Epileptic encephalopathy 2020-02-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925623 SCV004742883 likely benign RYR3-related disorder 2019-09-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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