ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1029G>A (p.Gln343=)

dbSNP: rs1393967586
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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 RCV001492655 SCV001697272 likely benign Koolen-de Vries syndrome 2019-01-26 criteria provided, single submitter clinical testing

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