ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.585+1G>A

dbSNP: rs2077460481
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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 RCV001253361 SCV001429033 pathogenic Borjeson-Forssman-Lehmann syndrome 2018-11-07 criteria provided, single submitter clinical testing This variant was identified as hemizygous

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