ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1487-6C>T

gnomAD frequency: 0.00004  dbSNP: rs902297435
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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 RCV002155496 SCV002422553 likely benign Pitt-Hopkins syndrome 2023-04-15 criteria provided, single submitter clinical testing

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