ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.241-17T>C

gnomAD frequency: 0.00015  dbSNP: rs781682211
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003512854 SCV004363873 benign Borjeson-Forssman-Lehmann syndrome 2025-12-30 criteria provided, single submitter clinical testing

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