ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.252C>T (p.Leu84=)

gnomAD frequency: 0.00555  dbSNP: rs112868209
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252150 SCV000301820 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000380591 SCV000353186 likely benign Malignant hyperthermia of anesthesia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000285981 SCV000353187 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000252150 SCV000533293 benign not specified 2016-12-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000542830 SCV000653672 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2025-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454736 SCV004180350 likely benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454737 SCV004180351 likely benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458369 SCV004180352 likely benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454735 SCV004180354 likely benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003454736 SCV004819099 benign Malignant hyperthermia, susceptibility to, 5 2024-02-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003454736 SCV006064083 benign Malignant hyperthermia, susceptibility to, 5 2022-10-20 criteria provided, single submitter clinical testing

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