ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1997T>A (p.Met666Lys)

gnomAD frequency: 0.00001  dbSNP: rs999241357
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674908 SCV000800319 uncertain significance Propionic acidemia 2018-06-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV000674908 SCV004202830 likely pathogenic Propionic acidemia 2023-10-29 criteria provided, single submitter clinical testing

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