ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.465T>C (p.Asn155=)

dbSNP: rs1603286017
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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 RCV001424334 SCV001626931 likely benign Pitt-Hopkins syndrome 2020-01-27 criteria provided, single submitter clinical testing

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