ClinVar Miner

List of variants reported as likely pathogenic for breast-ovarian cancer, familial, susceptibility to, 1 by Quest Diagnostics Nichols Institute San Juan Capistrano

Included ClinVar conditions (7):

Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 1; Carcinoma of pancreas; Hereditary breast ovarian cancer syndrome; Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1; Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1; Nijmegen breakage syndrome-like disorder
Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.4675+2T>G	rs879255293
NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs)	rs879255283
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)	rs80357268
NM_007294.4(BRCA1):c.715del (p.His239fs)	rs879255294

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