Variants in gene BMP6 - 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	risk factor	total
0	1	64	19	13	6	95

Condition and significance breakdown #

Total conditions: 6

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Condition	likely pathogenic	uncertain significance	likely benign	benign	risk factor	total
not specified	0	59	1	0	0	60
BMP6-related disorder	0	0	12	11	0	23
not provided	0	2	7	2	0	10
Iron overload, susceptibility to	0	1	0	0	6	7
Neonatal hemochromatosis	0	2	0	0	0	2
Premature ovarian failure	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 8

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Submitter	likely pathogenic	uncertain significance	likely benign	benign	risk factor	total
Ambry Genetics	0	59	1	0	0	60
PreventionGenetics, part of Exact Sciences	0	0	12	11	0	23
CeGaT Center for Human Genetics Tuebingen	0	2	7	1	0	10
OMIM	0	0	0	0	6	6
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust	0	2	0	0	0	2
Labcorp Genetics (formerly Invitae), Labcorp	0	0	0	1	0	1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano	1	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	0	1

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