ClinVar Miner

Submissions for variant NM_001304717.5(PTEN):c.1322-1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics,Johns Hopkins University RCV000850161 SCV000992351 likely pathogenic Macrocephaly/autism syndrome 2019-04-23 criteria provided, single submitter clinical testing This PTEN variant is absent from large population datasets and has not been reported in the literature, to our knowledge. Bioinformatic analysis predicts that this variant would affect normal exon 8 splicing, although this has not been confirmed experimentally to our knowledge. At this time, c.802-1G>A is considered likely pathogenic.

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