ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.2352C>T (p.Pro784=)

gnomAD frequency: 0.00017  dbSNP: rs367781728
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001085670 SCV000759791 likely benign Glycine encephalopathy 2024-10-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711817 SCV000842221 uncertain significance not provided 2018-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000711817 SCV001831933 likely benign not provided 2020-07-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000711817 SCV004161862 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing GLDC: BP4, BP7
Natera, Inc. RCV001085670 SCV001458638 likely benign Glycine encephalopathy 2020-04-13 no assertion criteria provided clinical testing

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