ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr)

gnomAD frequency: 0.00013  dbSNP: rs149316679
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000279484 SCV000467128 likely benign Batten-Turner congenital myopathy 2017-04-28 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics Inc RCV000518175 SCV000612776 uncertain significance not specified 2017-02-15 criteria provided, single submitter clinical testing
GeneDx RCV001712348 SCV000722027 likely benign not provided 2021-04-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22649220)
Invitae RCV000638263 SCV000759750 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001712348 SCV003830755 uncertain significance not provided 2023-03-13 criteria provided, single submitter clinical testing

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