ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.139-15A>T

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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 RCV003621991 SCV004524275 likely benign Borjeson-Forssman-Lehmann syndrome 2023-05-11 criteria provided, single submitter clinical testing

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