ClinVar Miner

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

gnomAD frequency: 0.00125  dbSNP: rs139615350
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Total submissions: 4
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000989939 SCV000645050 likely benign Koolen-de Vries syndrome 2024-01-22 criteria provided, single submitter clinical testing
Mendelics RCV000989939 SCV001140680 likely benign Koolen-de Vries syndrome 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704999 SCV005042256 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing KANSL1: BS1

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