ClinVar Miner

Submissions for variant NM_001040716.2(PC):c.2606G>A (p.Gly869Asp)

dbSNP: rs1555015018
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670028 SCV000794838 uncertain significance Pyruvate carboxylase deficiency 2017-10-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV000670028 SCV004202806 likely pathogenic Pyruvate carboxylase deficiency 2023-07-24 criteria provided, single submitter clinical testing

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