ClinVar Miner

Submissions for variant NM_000474.4(TWIST1):c.-18C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Skeletal Dysplasia Laboratory, Hospital Universitario La Paz RCV003225766 SCV002589128 pathogenic Saethre-Chotzen syndrome 2022-11-04 no assertion criteria provided clinical testing

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