ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8633-21A>G

dbSNP: rs1555288112
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000503278 SCV000592217 uncertain significance not provided no assertion criteria provided clinical testing The c.8633-21A>G variant has not been previously reported in the literature. It is located in the 3' splice region but does not affect the invariant -1 and -2 positions. However, positions -3 and -5 to -12 are part of the splicing consensus sequence and variants involving these positions sometimes affect splicing. This variant falls outside of the known consensus splice site region and so the clinical significance of this variant is not known.

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