ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.1260C>T (p.His420=)

gnomAD frequency: 0.00001  dbSNP: rs777575306
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000983463 SCV001131485 likely benign Glutaric aciduria, type 1 2023-10-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000983463 SCV001456401 likely benign Glutaric aciduria, type 1 2020-09-16 no assertion criteria provided clinical testing

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