ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.804A>G (p.Val268=)

dbSNP: rs2520636228
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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 RCV003082428 SCV003479610 likely benign Borjeson-Forssman-Lehmann syndrome 2022-06-10 criteria provided, single submitter clinical testing

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