ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.146C>T (p.Ser49Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wales Gene Park, Division Of Cancer and Genetics, Cardiff University RCV003228888 SCV003925761 likely pathogenic Borjeson-Forssman-Lehmann syndrome 2023-05-12 no assertion criteria provided clinical testing

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