ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.374+8T>C

gnomAD frequency: 0.00360  dbSNP: rs142596708
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000553977 SCV004564051 benign Borjeson-Forssman-Lehmann syndrome 2024-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001705783 SCV001901313 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000553977 SCV000631228 benign Borjeson-Forssman-Lehmann syndrome 2025-01-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117906 SCV000152181 benign not specified 2013-08-12 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000117906 SCV000114251 benign not specified 2014-04-07 criteria provided, single submitter clinical testing

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