ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.2T>C (p.Met1Thr)

dbSNP: rs121964978
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000012768 SCV001411442 pathogenic Glycine encephalopathy 2021-07-13 criteria provided, single submitter clinical testing
OMIM RCV004566735 SCV000033003 pathogenic Glycine encephalopathy 1 2005-01-01 no assertion criteria provided literature only
Natera, Inc. RCV000012768 SCV002078213 pathogenic Glycine encephalopathy 2020-02-10 no assertion criteria provided clinical testing

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