ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.441+18C>T (rs371973519)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000589716 SCV000253504 benign not provided 2019-02-25 criteria provided, single submitter clinical testing
Counsyl RCV000409822 SCV000488988 likely benign Breast-ovarian cancer, familial 1 2016-07-28 criteria provided, single submitter clinical testing
Color RCV000579959 SCV000683181 likely benign Hereditary cancer-predisposing syndrome 2016-06-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589716 SCV000699146 likely benign not provided 2016-03-17 criteria provided, single submitter clinical testing Variant summary: c.441+18C>T affects a non-conserved intronic nucleotide. MutationTaster predicts a benign outcome for this variant. 5/5 programs in Alamut predict that this variant does not affect normal splicing, which was supported by an mRNA transcript analysis (Houdayer_2012). This variant was found in 3/119630 control chromosomes at a frequency of 0.0000251, which does not significantly exceed maximal expected frequency of a pathogenic allele (0.0010005). In addition, a reputable database and a reputable clinical lab have classified this variant as likely neutral/likely benign. Taken together, this variant was classified as Likely Benign.
PreventionGenetics,PreventionGenetics RCV000589716 SCV000806951 likely benign not provided 2017-03-27 criteria provided, single submitter clinical testing
Mendelics RCV000409822 SCV001140636 likely benign Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000409822 SCV000733672 likely benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing

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