ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.741A>G (p.Arg247=)

gnomAD frequency: 0.12760  dbSNP: rs1881193
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712050 SCV000842464 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Invitae RCV001514689 SCV001722593 benign Koolen-de Vries syndrome 2021-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000712050 SCV001907485 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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