ClinVar Miner

Submissions for variant NM_001007228.2(SPOP):c.440A>G (p.Asn147Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV004776564 SCV005387944 uncertain significance Neurodevelopmental disorder with microcephaly and dysmorphic facies; Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies 2024-08-29 criteria provided, single submitter clinical testing

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