ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.-59C>A

dbSNP: rs2487014527
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003883216 SCV004697546 uncertain significance Congenital myotonia, autosomal recessive form 2024-02-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003423807 SCV004161238 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing CLCN1: PM2, PM3:Supporting

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