ClinVar Miner

Variants studied for Alpha-methylacyl-CoA racemase deficiency

Coded as:
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
1 1 215 125 20 351

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
AMACR, C1QTNF3-AMACR 1 1 211 119 16 338
AMACR, C1QTNF3-AMACR, SLC45A2 0 0 0 6 4 9
AMACR 0 0 2 0 0 2
AGXT2, AMACR, BRIX1, C1QTNF3, DNAJC21, PRLR, RAD1, RAI14, SLC45A2, TTC23L 0 0 1 0 0 1
AMACR, BRIX1, C1QTNF3, DNAJC21, RAD1, RAI14, TTC23L 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 174 110 14 299
Illumina Laboratory Services, Illumina 1 0 48 16 13 78
Genome-Nilou Lab 0 0 0 0 6 6
Mendelics 0 0 2 0 2 4
MGZ Medical Genetics Center 0 1 1 0 0 2
OMIM 1 0 0 0 0 1
Baylor Genetics 0 0 1 0 0 1

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