Variants studied for ataxia-hypogonadism-choroidal dystrophy syndrome

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)
		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	not provided	total
11	7	6	1	13	7	42

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	not provided	total
PNPLA6	11	7	6	0	13	7	41
MCOLN1, PNPLA6	0	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Genome-Nilou Lab	0	0	0	0	13	0	13
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	1	7	0	0	0	0	8
OMIM	7	0	0	0	0	0	7
GeneReviews	0	0	0	0	0	5	5
Fulgent Genetics, Fulgent Genetics	1	0	1	1	0	0	3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	1	0	0	0	0	2
New York Genome Center	0	0	2	0	0	0	2
3billion	0	0	2	0	0	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	2	2
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	0	0	1
State Key Lab of Medical Genetics, Central South University	1	0	0	0	0	0	1

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