ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.570G>A (p.Gly190=)

dbSNP: rs1365962710
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000863510 SCV001004184 likely benign not provided 2018-08-14 criteria provided, single submitter clinical testing
Invitae RCV001406795 SCV001608752 likely benign Koolen-de Vries syndrome 2018-08-12 criteria provided, single submitter clinical testing
GeneDx RCV000863510 SCV002571349 likely benign not provided 2019-09-27 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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