ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14919G>A (p.Pro4973=)

gnomAD frequency: 0.00016  dbSNP: rs535386378
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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 RCV000530634 SCV000659865 benign RYR1-related disorder 2024-01-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003514374 SCV004358233 likely benign Malignant hyperthermia, susceptibility to, 1 2022-11-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000530634 SCV004757937 likely benign RYR1-related disorder 2019-04-01 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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