ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.623C>T (p.Thr208Ile)

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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 RCV003622543 SCV004404552 likely benign Borjeson-Forssman-Lehmann syndrome 2024-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004756526 SCV005354967 uncertain significance PHF6-related disorder 2024-02-21 no assertion criteria provided clinical testing The PHF6 c.623C>T variant is predicted to result in the amino acid substitution p.Thr208Ile. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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