ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.445C>A (p.His149Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004756632 SCV005344154 uncertain significance PHF6-related disorder 2023-12-05 no assertion criteria provided clinical testing The PHF6 c.445C>A variant is predicted to result in the amino acid substitution p.His149Asn. 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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