ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.1810C>T (p.Gln604Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University RCV003156047 SCV003842208 pathogenic Schimke immuno-osseous dysplasia no assertion criteria provided research

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