ClinVar Miner

Submissions for variant NM_000474.4(TWIST1):c.259_276del (p.Ala87_Gly92del)

dbSNP: rs544465774
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248497 SCV000304427 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000653737 SCV000775627 benign TWIST1-related craniosynostosis; Saethre-Chotzen syndrome 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001723838 SCV001950531 benign not provided 2020-03-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24166674, 15253176, 11748846, 24706433, 17343269, 16838304, 15880747)

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