ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.313T>C (p.Cys105Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV003397226 SCV004102764 likely pathogenic Macrocephaly-autism syndrome 2023-10-25 criteria provided, single submitter clinical testing

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