ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.758C>G (p.Thr253Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005041604 SCV005683322 uncertain significance Borjeson-Forssman-Lehmann syndrome 2023-12-29 criteria provided, single submitter clinical testing

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