ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.84G>T (p.Pro28=)

gnomAD frequency: 0.00003  dbSNP: rs1259938806
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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 RCV000982869 SCV001130888 likely benign Non-ketotic hyperglycinemia 2023-12-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000982869 SCV002078206 likely benign Non-ketotic hyperglycinemia 2021-02-02 no assertion criteria provided clinical testing

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