ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2491-1G>T

dbSNP: rs1558067283
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005004415 SCV005630797 likely pathogenic Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 2024-01-30 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000782245 SCV000920735 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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