ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7007+18T>A (rs377471435)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580097 SCV000683837 likely benign Hereditary cancer-predisposing syndrome 2016-07-01 criteria provided, single submitter clinical testing
Counsyl RCV000409813 SCV000489695 likely benign Breast-ovarian cancer, familial 2 2016-11-07 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589381 SCV000695021 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.7007+18T>A variant involves the alteration of a non-conserved intronic nucleotide, which 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 2/109436 (1/54718), which does not exceed the estimated maximal expected allele frequency for a pathogenic BRCA2 variant of 1/1333. A validation study cites the variant in an individual but limited information is provided (ie, co-occurrence and cosegregation data). Multiple clinical diagnostic laboratories/reputable databases classified this variant as "likely benign" or "uncertain significance." Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000204320 SCV000259954 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-15 criteria provided, single submitter clinical testing

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