ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1065+15T>C

gnomAD frequency: 0.00001  dbSNP: rs762540382
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002102061 SCV002328024 likely benign Propionic acidemia 2022-11-06 criteria provided, single submitter clinical testing

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