Variants studied for Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
206	77	387	528	31	8	1212

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
CLCN1	194	74	356	496	30	8	1133
CLCN1, LOC123956257	11	3	31	32	1	0	78
CLCN1, FAM131B	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	206	70	385	517	31	0	1209
Fulgent Genetics, Fulgent Genetics	9	1	4	5	0	0	19
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences	1	6	0	8	1	0	16
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	7	7
Baylor Genetics	1	0	1	0	0	0	2
Athena Diagnostics	0	0	0	0	1	0	1
Division of Human Genetics, Children's Hospital of Philadelphia	0	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
New York Genome Center	1	0	0	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	1	0	0	0	0	0	1

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