ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.2151C>T (p.Ile717=)

gnomAD frequency: 0.00009  dbSNP: rs1055782169
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002155308 SCV002415568 likely benign Glycine encephalopathy 2024-12-09 criteria provided, single submitter clinical testing

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