Variants in gene ADCY6 - ClinVar Miner

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	total
3	1	87	24	25	137

Condition and significance breakdown #

Total conditions: 5

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Inborn genetic diseases	0	0	77	0	0	77
not provided	0	0	6	15	24	44
ADCY6-related disorder	0	0	0	12	5	17
Lethal congenital contracture syndrome 8	3	1	5	0	0	7
not specified	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Ambry Genetics	0	0	77	0	0	77
Labcorp Genetics (formerly Invitae), Labcorp	0	0	0	15	8	23
Breakthrough Genomics, Breakthrough Genomics	0	0	0	1	19	20
GeneDx	0	0	0	0	17	17
PreventionGenetics, part of Exact Sciences	0	0	0	12	5	17
Mayo Clinic Laboratories, Mayo Clinic	0	0	6	0	0	6
OMIM	3	0	0	0	0	3
Revvity Omics, Revvity	0	0	2	0	0	2
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	2	0	0	2
CeGaT Center for Human Genetics Tuebingen	0	0	0	2	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	0	1	0	0	1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	1

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