ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.146-3T>G

dbSNP: rs1341051748
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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 RCV000700153 SCV000828897 uncertain significance Pitt-Hopkins syndrome 2021-08-27 criteria provided, single submitter clinical testing

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