Variants studied for Acrodysostosis 1 with or without hormone resistance

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)

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
6	4	86	9	17	3	122

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	not provided	total
PRKAR1A	6	4	85	9	17	2	120
ARSG, PRKAR1A, WIPI1	0	0	0	0	0	1	1
FAM20A, PRKAR1A	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	1	0	47	5	13	0	66
Baylor Genetics	1	0	26	0	0	0	27
Fulgent Genetics, Fulgent Genetics	1	2	15	4	0	0	22
Genome-Nilou Lab	0	0	0	0	4	0	4
OMIM	4	0	0	0	0	0	4
3billion	1	0	0	0	0	0	1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	1	0	0	0	0	0	1
Gene Discovery Core-Manton Center, Boston Children's Hospital	0	1	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies	0	0	0	0	0	1	1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	1	0	0	0	0	1
Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University	0	1	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	0	1

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