ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.623A>G (p.Gln208Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004528658 SCV004110125 uncertain significance BRIP1-related disorder 2023-05-25 criteria provided, single submitter clinical testing The BRIP1 c.623A>G variant is predicted to result in the amino acid substitution p.Gln208Arg. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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