ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.499+16G>A

gnomAD frequency: 0.00002  dbSNP: rs369712872
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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 RCV002189948 SCV002346888 likely benign Pitt-Hopkins syndrome 2023-09-20 criteria provided, single submitter clinical testing

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