ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.1242C>T (p.Ala414=)

gnomAD frequency: 0.00002  dbSNP: rs761471932
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000940956 SCV001086827 likely benign Glycine encephalopathy 2024-03-17 criteria provided, single submitter clinical testing

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