ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.117C>T (p.Asn39=) (rs747136051)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000996571 SCV001151359 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Invitae RCV001443473 SCV001646445 likely benign Koolen-de Vries syndrome 2020-08-20 criteria provided, single submitter clinical testing

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