ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1839T>C (p.Leu613=)

dbSNP: rs1598526728
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001478192 SCV001682457 likely benign Koolen-de Vries syndrome 2018-02-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001478192 SCV002802389 likely benign Koolen-de Vries syndrome 2022-01-18 criteria provided, single submitter clinical testing

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