ClinVar Miner

Submissions for variant NM_000474.4(TWIST1):c.369G>C (p.Ser123=)

gnomAD frequency: 0.00049  dbSNP: rs144664279
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000877697 SCV001020473 benign TWIST1-related craniosynostosis; Saethre-Chotzen syndrome 2023-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438542 SCV004163760 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing TWIST1: BP4, BP7

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