ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.696T>C (p.Asn232=)

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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 RCV005150279 SCV005771299 likely benign Borjeson-Forssman-Lehmann syndrome 2024-02-22 criteria provided, single submitter clinical testing

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