ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.1446C>T (p.Asp482=)

gnomAD frequency: 0.00003  dbSNP: rs201147701
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001460852 SCV001664734 likely benign Glycine encephalopathy 2024-03-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001460852 SCV002075771 likely benign Glycine encephalopathy 2020-10-25 no assertion criteria provided clinical testing

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