ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.139-11_139-7del

dbSNP: rs781657256
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729886 SCV000857580 likely benign not specified 2017-11-02 criteria provided, single submitter clinical testing
Invitae RCV000945844 SCV001091906 benign Borjeson-Forssman-Lehmann syndrome 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001692281 SCV001911669 benign not provided 2018-06-25 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001692281 SCV001924719 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001692281 SCV001972414 likely benign not provided no assertion criteria provided clinical testing

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