ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2248A>G (p.Ser750Gly)

gnomAD frequency: 0.00002  dbSNP: rs730881196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721015 SCV000209430 likely benign not provided 2019-01-08 criteria provided, single submitter clinical testing
Invitae RCV000642264 SCV000763925 benign Mowat-Wilson syndrome 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000642264 SCV002045673 benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

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