ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.864A>G (p.Arg288=)

gnomAD frequency: 0.00001  dbSNP: rs771222501
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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 RCV001414705 SCV001616845 likely benign Propionic acidemia 2023-11-10 criteria provided, single submitter clinical testing

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