ClinVar Miner

Submissions for variant NM_001040716.2(PC):c.2124C>T (p.Gly708=)

gnomAD frequency: 0.00003  dbSNP: rs200488501
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
Invitae RCV000912731 SCV001057846 likely benign Pyruvate carboxylase deficiency 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003396542 SCV004137018 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing PC: BP4, BP7

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