ClinVar Miner

Submissions for variant NM_001040716.2(PC):c.584C>T (p.Ala195Val)

dbSNP: rs1436643226
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667975 SCV000792508 uncertain significance Pyruvate carboxylase deficiency 2017-08-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV000667975 SCV004202822 likely pathogenic Pyruvate carboxylase deficiency 2023-02-23 criteria provided, single submitter clinical testing

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