ClinVar Miner

Variants in gene RMRP

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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 total
39 144 237 23 13 419

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Anauxetic dysplasia 22 88 172 17 8 307
Metaphyseal chondrodysplasia, McKusick type 20 84 96 2 5 198
not specified 0 0 5 7 4 15
not provided 3 4 0 0 1 8
Anauxetic dysplasia 1 5 0 0 0 0 5
Metaphyseal dysplasia without hypotrichosis 5 0 0 0 0 5
Anauxetic dysplasia 1; Metaphyseal chondrodysplasia, McKusick type; Metaphyseal dysplasia without hypotrichosis 0 1 1 0 0 2
none provided 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 22 88 172 17 9 308
Counsyl 2 60 63 1 0 126
Natera, Inc. 0 4 35 1 5 45
Integrated Genetics/Laboratory Corporation of America 11 29 3 0 0 43
OMIM 21 0 0 0 0 21
GeneDx 3 4 1 7 4 19
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 0 2
Fulgent Genetics,Fulgent Genetics 0 1 1 0 0 2
Department of Pediatrics,University of Modena and Reggio Emilia 1 0 0 0 0 1

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