ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1383G>A (p.Leu461=)

gnomAD frequency: 0.00001  dbSNP: rs1447151923
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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 RCV001453328 SCV001657015 likely benign Pitt-Hopkins syndrome 2021-07-07 criteria provided, single submitter clinical testing

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