ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1783C>G (p.Pro595Ala)

gnomAD frequency: 0.00001  dbSNP: rs947698008
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000733848 SCV000861949 uncertain significance not provided 2018-06-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV001328698 SCV001519873 uncertain significance Koolen-de Vries syndrome 2019-03-04 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001328698 SCV001557704 uncertain significance Koolen-de Vries syndrome 2021-09-01 criteria provided, single submitter clinical testing

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