ClinVar Miner

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

Coded as:
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Gene type:
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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
202 72 387 521 31 8 1205

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 190 69 356 489 30 8 1126
CLCN1, LOC123956257 11 3 31 32 1 0 78
CLCN1, FAM131B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 202 70 385 517 31 0 1205
Fulgent Genetics, Fulgent Genetics 9 1 4 5 0 0 19
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
Baylor Genetics 1 0 1 0 0 0 2
Athena Diagnostics Inc 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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