ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1491A>G (p.Pro497=)

dbSNP: rs17576165
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712035 SCV000842449 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Invitae RCV001514688 SCV001722592 benign Koolen-de Vries syndrome 2021-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000712035 SCV001900570 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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