ClinVar Miner

Submissions for variant NM_001348768.2(HECW2):c.4507A>G (p.Thr1503Ala)

dbSNP: rs1687461840
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Statistical Genetics, Columbia University RCV001328402 SCV001519462 likely pathogenic Neurodevelopmental disorder with hypotonia, seizures, and absent language 2021-03-17 criteria provided, single submitter clinical testing

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