ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.112G>A (p.Gly38Ser)

gnomAD frequency: 0.00002  dbSNP: rs770738115
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000863167 SCV000520424 likely benign not provided 2020-03-31 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714716 SCV000845442 uncertain significance Koolen-de Vries syndrome 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV000863167 SCV001003777 likely benign not provided 2018-08-08 criteria provided, single submitter clinical testing
Invitae RCV000714716 SCV001698858 likely benign Koolen-de Vries syndrome 2021-08-24 criteria provided, single submitter clinical testing

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