ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.184-5T>C

gnomAD frequency: 0.00001  dbSNP: rs780230606
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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 RCV001446300 SCV001649344 likely benign Propionic acidemia 2024-11-16 criteria provided, single submitter clinical testing

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