Variants in gene combination HCFC1, LOC130068842

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
0	0	8	17	13	34

Condition and significance breakdown #

Total conditions: 5

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Condition	uncertain significance	likely benign	benign	total
Methylmalonic acidemia with homocystinuria, type cblX	4	14	12	30
not provided	3	3	2	8
not specified	1	1	2	3
HCFC1-related disorder	1	0	1	2
Inborn genetic diseases	1	1	0	2

Submitter and significance breakdown #

Total submitters: 12

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Submitter	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	3	14	12	29
GeneDx	3	1	2	6
CeGaT Center for Human Genetics Tuebingen	1	2	0	3
Ambry Genetics	1	1	0	2
PreventionGenetics, part of Exact Sciences	1	0	1	2
Genetic Services Laboratory, University of Chicago	1	0	0	1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	1
Revvity Omics, Revvity	1	0	0	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	1	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	1	1
Breakthrough Genomics, Breakthrough Genomics	0	0	1	1

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