ClinVar Miner

Variants studied for Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9

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
42 17 227 330 40 3 654

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MUSK 41 16 226 330 40 3 651
LOC124310625, LOC126860730, MUSK 1 0 0 0 0 0 1
LOC124310625, MUSK 0 1 0 0 0 0 1
MUSK, SVEP1, TXN, TXNDC8 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 42 17 226 329 40 0 654
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 0 2

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