ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.537C>G (p.Thr179=)

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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 RCV003622311 SCV004550583 benign Borjeson-Forssman-Lehmann syndrome 2024-09-25 criteria provided, single submitter clinical testing

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