ClinVar Miner

List of variants reported as uncertain significance for breast-ovarian cancer, familial, susceptibility to, 1 by Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research

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)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000251.3(MSH2):c.286C>T (p.Arg96Cys)	rs1443234544	0.00001
NM_000179.3(MSH6):c.3974A>C (p.Lys1325Thr)	rs876658189
NM_000249.4(MLH1):c.896G>A (p.Ser299Asn)	rs1553647926

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