ClinVar Miner

Variants studied for Neu-Laxova syndrome 2

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
26 6 117 114 13 276

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PSAT1 25 6 117 114 13 275
CEP78, GNA14, GNAQ, PSAT1, VPS13A 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 23 5 116 114 11 269
Genome-Nilou Lab 0 0 0 0 4 4
OMIM 3 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 1

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