ClinVar Miner

Variants studied for Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11

Coded as:
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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 total
71 13 154 328 16 580

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 total
RAPSN 70 13 153 328 16 578
ACP2, ARFGAP2, CSTPP1, DDB2, LRP4, MADD, MYBPC3, NR1H3, PACSIN3, PSMC3, RAPSN, SLC39A13, SPI1 1 0 0 0 0 1
PSMC3, RAPSN, SLC39A13 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 71 13 151 328 16 579
Counsyl 2 0 1 0 0 3
Baylor Genetics 0 0 2 0 0 2
Fulgent Genetics, Fulgent Genetics 1 0 1 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 1

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