ClinVar Miner

Submissions for variant NM_138927.4(SON):c.4480C>T (p.Gln1494Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002288430 SCV002580788 pathogenic ZTTK syndrome 2022-02-16 criteria provided, single submitter clinical testing

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