ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.607G>T (p.Gly203Trp)

dbSNP: rs138175526
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001431354 SCV001634110 likely benign Koolen-de Vries syndrome 2022-09-07 criteria provided, single submitter clinical testing
GeneDx RCV001713091 SCV001941277 benign not provided 2020-03-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001431354 SCV002796222 likely benign Koolen-de Vries syndrome 2021-12-22 criteria provided, single submitter clinical testing

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