ClinVar Miner

Submissions for variant NM_001003694.2(BRPF1):c.286C>T (p.Gln96Ter) (rs1553693863)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000509413 SCV000890378 pathogenic not provided 2018-11-20 criteria provided, single submitter clinical testing The Q96X variant in the BRPF1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q96X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q96X as a pathogenic variant.
GenomeConnect, ClinGen RCV000509413 SCV000606995 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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