ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.138+10C>T

dbSNP: rs778255925
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003621579 SCV001114052 benign Borjeson-Forssman-Lehmann syndrome 2023-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003897950 SCV004710429 likely benign PHF6-related disorder 2020-12-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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