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
219	123	443	557	31	8	1329

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	205	119	409	525	30	8	1244
CLCN1, LOC123956257	13	4	34	32	1	0	84
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
Labcorp Genetics (formerly Invitae), Labcorp	217	76	439	546	31	0	1309
Fulgent Genetics, Fulgent Genetics	32	46	7	5	0	0	90
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
Juno Genomics, Hangzhou Juno Genomics, Inc	2	1	1	0	0	0	4
Baylor Genetics	1	0	1	0	0	0	2
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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