ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.65C>A (p.Ser22Ter)

dbSNP: rs1569334260
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761327 SCV000891312 likely pathogenic Borjeson-Forssman-Lehmann syndrome 2016-12-09 criteria provided, single submitter clinical testing

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