ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1715A>G (p.His572Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003643579 SCV004403756 likely benign Koolen-de Vries syndrome 2025-01-07 criteria provided, single submitter clinical testing

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