ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.528A>G (p.Ser176=)

gnomAD frequency: 0.00004  dbSNP: rs150815514
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002542282 SCV001079766 likely benign Borjeson-Forssman-Lehmann syndrome 2022-02-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004756117 SCV005348707 likely benign PHF6-related disorder 2024-05-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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