ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1830C>A (p.Ile610=)

dbSNP: rs150800846
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703678 SCV000521667 uncertain significance not provided 2024-09-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV000865277 SCV001006214 likely benign Koolen-de Vries syndrome 2025-01-28 criteria provided, single submitter clinical testing

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