ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.802G>C (p.Val268Leu)

dbSNP: rs2077467347
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262915 SCV001440968 likely pathogenic Borjeson-Forssman-Lehmann syndrome 2019-01-01 criteria provided, single submitter clinical testing

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