ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.2T>C (p.Met1Thr) (rs132630300)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000011817 SCV000631227 pathogenic Borjeson-Forssman-Lehmann syndrome 2019-02-28 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the PHF6 mRNA. The next in-frame methionine is located at codon 46. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with B rjeson Forssman Lehmann syndrome in several families (PMID: 12415272, 15994862, Invitae). ClinVar contains an entry for this variant (Variation ID: 11068). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011817 SCV000032050 pathogenic Borjeson-Forssman-Lehmann syndrome 2002-12-01 no assertion criteria provided literature only
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000011817 SCV001190304 pathogenic Borjeson-Forssman-Lehmann syndrome 2019-08-12 no assertion criteria provided clinical testing

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