ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1929C>T (p.Ala643=)

gnomAD frequency: 0.00003  dbSNP: rs772945583
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000910725 SCV001055612 likely benign Propionic acidemia 2024-05-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000910725 SCV001463922 uncertain significance Propionic acidemia 2020-03-10 no assertion criteria provided clinical testing

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