ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)

gnomAD frequency: 0.00457  dbSNP: rs118066140
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239241 SCV000296868 benign not specified 2015-11-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000404319 SCV000467113 benign Batten-Turner congenital myopathy 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000239241 SCV000512628 benign not specified 2017-07-25 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513813 SCV000610814 likely benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Invitae RCV001086594 SCV000636344 benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000239241 SCV000700575 benign not specified 2017-06-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000660618 SCV000782736 uncertain significance Congenital myotonia, autosomal recessive form 2017-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000513813 SCV000841574 benign not provided 2018-02-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513813 SCV001155291 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing CLCN1: PP3, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000239241 SCV002036001 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000239241 SCV002037399 benign not specified no assertion criteria provided clinical testing

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