ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1124C>T (p.Ser375Leu)

gnomAD frequency: 0.00022  dbSNP: rs142696045
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705009 SCV000241367 likely benign not provided 2019-11-04 criteria provided, single submitter clinical testing
Invitae RCV000464142 SCV000548812 benign Koolen-de Vries syndrome 2021-06-28 criteria provided, single submitter clinical testing

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