ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.4088C>G (p.Ala1363Gly) (rs774603798)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000590904 SCV000700118 uncertain significance Malignant hyperthermia 2016-10-01 criteria provided, single submitter research Found in patient having exome sequencing for an unrelated indication. No known history of malignant hyperthermia. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review.

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