ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1859A>C (p.Asn620Thr)

dbSNP: rs200979425
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622397 SCV000742482 uncertain significance Inborn genetic diseases 2017-06-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000812122 SCV000952426 benign Koolen-de Vries syndrome 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000812122 SCV002794211 uncertain significance Koolen-de Vries syndrome 2022-01-11 criteria provided, single submitter clinical testing

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