ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.294A>C (p.Thr98=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003622901 SCV004422902 likely benign Borjeson-Forssman-Lehmann syndrome 2023-01-20 criteria provided, single submitter clinical testing

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