ClinVar Miner

Submissions for variant NM_020699.4(GATAD2B):c.544C>T (p.Leu182=)

gnomAD frequency: 0.00013  dbSNP: rs368676576
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193821 SCV000247459 uncertain significance not specified 2015-07-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000897343 SCV001041484 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000897343 SCV001908105 benign not provided 2020-02-06 criteria provided, single submitter clinical testing

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