ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.250C>T (p.Leu84=)

gnomAD frequency: 0.00005  dbSNP: rs746606221
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000877166 SCV001019858 benign Non-ketotic hyperglycinemia 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000877166 SCV001452738 uncertain significance Non-ketotic hyperglycinemia 2020-01-24 no assertion criteria provided clinical testing

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