ClinVar Miner

Submissions for variant NM_001127207.2:c.(1147+1_1148-1)_(1334+1_1335-1)del

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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, Fundació Puigvert RCV001281343 SCV001425265 pathogenic Schimke immuno-osseous dysplasia 2020-02-01 criteria provided, single submitter research

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