ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.738del (p.Phe246fs)

dbSNP: rs1566221413
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709295 SCV000838745 pathogenic Hereditary breast ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000988994 SCV001138977 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2019-05-28 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000988994 SCV003806972 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2022-09-03 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 supporting, PM2 moderated

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