ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2718T>G (p.Asn906Lys)

gnomAD frequency: 0.00125  dbSNP: rs139615350
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
GeneDx RCV001704999 SCV000241333 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
Invitae RCV000989939 SCV000645050 likely benign Koolen-de Vries syndrome 2021-12-06 criteria provided, single submitter clinical testing
Mendelics RCV000989939 SCV001140680 likely benign Koolen-de Vries syndrome 2019-05-28 criteria provided, single submitter clinical testing

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