ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.4430C>G (p.Thr1477Ser) (rs78348923)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000425245 SCV000511463 likely benign not provided 2017-01-23 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001083855 SCV000626757 benign Glycogen storage disease type III 2020-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000425245 SCV000729668 benign not provided 2019-11-14 criteria provided, single submitter clinical testing

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