ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.3002C>A (p.Thr1001Asn)

gnomAD frequency: 0.00001  dbSNP: rs555776146
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000896925 SCV001041038 likely benign Non-ketotic hyperglycinemia 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV000896925 SCV001458628 benign Non-ketotic hyperglycinemia 2020-01-01 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702747 SCV001929211 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702747 SCV001966673 likely benign not provided no assertion criteria provided clinical testing

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