ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.414T>G (p.Leu138=)

gnomAD frequency: 0.11611  dbSNP: rs17662889
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 RCV000712045 SCV000842459 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Invitae RCV001514692 SCV001722596 benign Koolen-de Vries syndrome 2021-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000712045 SCV001907854 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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