ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.1020_1022del (p.Glu341del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002645892 SCV002961720 uncertain significance Borjeson-Forssman-Lehmann syndrome 2022-04-09 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant, c.1020_1022del, results in the deletion of 1 amino acid(s) of the PHF6 protein (p.Glu341del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PHF6-related conditions.

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