ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3686G>C (p.Arg1229Pro)

dbSNP: rs774416016
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV002051711 SCV000700116 uncertain significance Malignant hyperthermia of anesthesia 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002061992 SCV002372298 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-06-03 criteria provided, single submitter clinical testing

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