ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1774C>T (p.Arg592Trp)

dbSNP: rs774841964
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552242 SCV000645039 uncertain significance Koolen-de Vries syndrome 2021-07-14 criteria provided, single submitter clinical testing
Laboratoire Génétique Moléculaire, CHRU TOURS RCV001542080 SCV001760746 likely pathogenic not provided 2020-04-06 criteria provided, single submitter clinical testing

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