ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.414C>T (p.Ser138=)

gnomAD frequency: 0.00010  dbSNP: rs200423380
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193514 SCV000248513 likely benign not specified 2015-05-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726074 SCV000341753 uncertain significance not provided 2016-05-18 criteria provided, single submitter clinical testing
Invitae RCV003512024 SCV001086020 benign Borjeson-Forssman-Lehmann syndrome 2023-06-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937710 SCV004755398 likely benign PHF6-related condition 2022-02-26 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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