ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.209A>G (p.Asn70Ser)

gnomAD frequency: 0.00001  dbSNP: rs200359873
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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 RCV000546702 SCV000646123 benign Pitt-Hopkins syndrome 2023-05-20 criteria provided, single submitter clinical testing

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