ClinVar Miner

Submissions for variant NM_001003694.2(BRPF1):c.2420_2433del (p.Gln807fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003147746 SCV002569100 pathogenic not provided 2022-09-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease
Fulgent Genetics, Fulgent Genetics RCV005032217 SCV005659836 pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis 2024-05-21 criteria provided, single submitter clinical testing

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