ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.870T>C (p.Ile290=)

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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 RCV003513306 SCV004278275 likely benign Borjeson-Forssman-Lehmann syndrome 2024-12-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004756520 SCV005355612 likely benign PHF6-related disorder 2024-09-11 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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