ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3636T>C (p.Asn1212=) (rs1555283324)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603593 SCV000729499 likely benign not specified 2017-03-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000590047 SCV000694709 uncertain significance not provided 2016-11-14 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.3636T>C (p.Asn1212Asn) variant causes synonymous change involving a non-conserved nucleotide with 5/5 splice prediction tools predict no significant impact on normal splicing, although these predictions have yet to be functionally assessed. The variant of interest has not been observed in controls (ExAC, 1000 Gs, or ESP), nor has it been, to our knowledge, reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. 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"

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