ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5145_5152+8delinsAAATAG

dbSNP: rs1597819841
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985431 SCV001133614 likely pathogenic not provided 2019-02-03 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data are high quality.

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