ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.823G>A (p.Gly275Arg)

dbSNP: rs1602716458
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV000991195 SCV001142206 uncertain significance Borjeson-Forssman-Lehmann syndrome no assertion criteria provided clinical testing

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