ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.8305G>A (p.Asp2769Asn) (rs566495420)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153867 SCV000203460 uncertain significance not provided 2013-12-18 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000209994 SCV000265727 uncertain significance Malignant hyperthermia, susceptibility to, 1 2013-07-01 criteria provided, single submitter research
Invitae RCV000546532 SCV000660058 likely benign RYR1-Related Disorders 2017-02-15 criteria provided, single submitter clinical testing

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