ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile) (rs568371168)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662048 SCV000784384 uncertain significance ALG3-CDG 2018-03-05 criteria provided, single submitter clinical testing
Invitae RCV000896802 SCV001040911 likely benign not provided 2018-12-19 criteria provided, single submitter clinical testing

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