ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.762A>C (p.Thr254=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002396288 SCV002670609 likely benign Inborn genetic diseases 2016-01-19 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Invitae RCV003099701 SCV003461294 likely benign Borjeson-Forssman-Lehmann syndrome 2023-12-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003439008 SCV004165666 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing PHF6: BP4, BP7

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