ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln)

gnomAD frequency: 0.00004  dbSNP: rs577625696
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872035 SCV001013785 likely benign Propionic acidemia 2024-06-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000872035 SCV003812344 uncertain significance Propionic acidemia 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004958213 SCV005465236 likely benign Inborn genetic diseases 2024-09-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV000872035 SCV001461410 uncertain significance Propionic acidemia 2020-01-10 no assertion criteria provided clinical testing

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