ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.146A>G (p.Asn49Ser)

dbSNP: rs932137046
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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 RCV001450291 SCV001653893 likely benign Pitt-Hopkins syndrome 2023-05-09 criteria provided, single submitter clinical testing

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