ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.488G>A (p.Arg163His)

dbSNP: rs2124248390
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002245125 SCV002513712 uncertain significance not provided 2021-11-11 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); In silico analysis supports that this missense variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV005042753 SCV005683321 uncertain significance Borjeson-Forssman-Lehmann syndrome 2024-03-17 criteria provided, single submitter clinical testing

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