ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.769A>G (p.Arg257Gly)

dbSNP: rs104894919
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004589505 SCV005080290 pathogenic not provided 2023-08-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24554700, 15580208, 22190899, 12415272, 15466013, 35904121, 27633282)
OMIM RCV000011818 SCV000032051 pathogenic Borjeson-Forssman-Lehmann syndrome 2004-10-01 no assertion criteria provided literature only

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