ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.729+4A>G

gnomAD frequency: 0.00691  dbSNP: rs188961105
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117904 SCV000152179 uncertain significance not provided 2013-02-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312207 SCV000847125 benign Inborn genetic diseases 2016-07-11 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001087918 SCV001020661 benign Borjeson-Forssman-Lehmann syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000117904 SCV001869923 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975033 SCV004797734 benign PHF6-related disorder 2019-08-30 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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