ClinVar Miner

Submissions for variant NM_207037.2(TCF12):c.1950C>T (p.Val650=)

gnomAD frequency: 0.00440  dbSNP: rs77034126
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243904 SCV000317220 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000973968 SCV001121764 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000973968 SCV001787808 likely benign not provided 2020-04-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479976 SCV002796673 likely benign TCF12-related craniosynostosis; Hypogonadotropic hypogonadism 26 with or without anosmia 2021-09-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000973968 SCV004132556 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing TCF12: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000973968 SCV005214964 likely benign not provided criteria provided, single submitter not provided

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