ClinVar Miner

Submissions for variant NM_001289396.1:c.[3495G>C(;)3917G>A]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics, CHU Rennes RCV000415335 SCV000493071 likely pathogenic Nicolaides-Baraitser syndrome no assertion criteria provided clinical testing

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