ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.729+2T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Bochum, Ruhr University Bochum RCV003887833 SCV004704518 likely pathogenic Borjeson-Forssman-Lehmann syndrome 2023-08-25 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PVS1_STR, PM1, PM2_SUP

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