ClinVar Miner

Submissions for variant NM_016207.4(CPSF3):c.653G>A (p.Arg218Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV003493384 SCV004242196 uncertain significance Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures 2023-04-28 no assertion criteria provided clinical testing

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