ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.949C>T (p.Pro317Ser) (rs864621971)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília RCV000205374 SCV000223909 pathogenic Townes-Brocks syndrome 1 2015-04-01 criteria provided, single submitter research
Mendelics RCV000205374 SCV001140104 uncertain significance Townes-Brocks syndrome 1 2019-05-28 criteria provided, single submitter clinical testing

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