Variants in gene ESR1 - 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	not provided	total
4	1	26	48	43	4	1	118

Condition and significance breakdown #

Total conditions: 10

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	not provided	total
not provided	0	0	9	45	42	0	0	91
not specified	0	0	14	1	0	0	0	15
ESR1-related disorder	0	0	0	4	5	0	0	9
Estrogen resistance syndrome	3	1	1	0	0	1	1	5
Familial cancer of breast; Estrogen resistance syndrome; Migraine with or without aura, susceptibility to, 1	0	0	2	0	0	0	0	2
Familial cancer of breast; Estrogen resistance syndrome; Myocardial infarction, susceptibility to; Migraine with or without aura, susceptibility to, 1	0	0	0	1	1	0	0	2
Estrogen receptor mutant, temperature-sensitive	1	0	0	0	0	0	0	1
Familial cancer of breast	0	0	0	0	0	1	0	1
Migraine with or without aura, susceptibility to	0	0	0	0	0	1	0	1
Myocardial infarction, susceptibility to	0	0	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	not provided	total
GeneDx	0	0	6	23	33	0	0	62
Labcorp Genetics (formerly Invitae), Labcorp	0	0	0	18	10	0	0	28
Ambry Genetics	0	0	14	1	0	0	0	15
Breakthrough Genomics, Breakthrough Genomics	0	0	1	14	0	0	0	15
PreventionGenetics, part of Exact Sciences	0	0	0	4	5	0	0	9
OMIM	4	0	1	0	0	2	0	7
CeGaT Center for Human Genetics Tuebingen	0	0	0	5	1	0	0	6
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	4	0	0	0	0	4
Fulgent Genetics, Fulgent Genetics	0	0	0	1	1	0	0	2
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	0	0	0	0	1	1	2
Bionano Laboratories	0	0	1	0	0	0	0	1
Department of Zoology, University of the Punjab, Lahore	0	0	0	0	0	1	0	1
SIB Swiss Institute of Bioinformatics	0	1	0	0	0	0	0	1

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