ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.132G>A (p.Lys44=)

gnomAD frequency: 0.00002  dbSNP: rs759708359
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001440807 SCV001643721 likely benign Borjeson-Forssman-Lehmann syndrome 2020-06-03 criteria provided, single submitter clinical testing

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