ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2364+10G>A (rs201855153)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000299390 SCV000467131 likely benign Myotonia congenita 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512799 SCV000609282 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Invitae RCV001086202 SCV000636318 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000512799 SCV000730612 likely benign not provided 2018-05-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23739125, 24452722)
Athena Diagnostics Inc RCV000512799 SCV001143593 likely benign not provided 2019-04-15 criteria provided, single submitter clinical testing

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