ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.562+1G>C

dbSNP: rs2116837885
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001531060 SCV001746012 pathogenic not provided 2021-06-01 criteria provided, single submitter clinical testing
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV003330099 SCV004037265 likely pathogenic Congenital myotonia, autosomal recessive form 2021-02-02 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003330099 SCV004697565 likely pathogenic Congenital myotonia, autosomal recessive form 2024-02-20 criteria provided, single submitter clinical testing

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