ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.889C>T (p.Arg297Cys)

gnomAD frequency: 0.00002  dbSNP: rs549397464
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000784910 SCV000923451 uncertain significance Propionic acidemia 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000784910 SCV001014982 likely benign Propionic acidemia 2024-01-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000784910 SCV001304782 uncertain significance Propionic acidemia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV000784910 SCV001454520 likely benign Propionic acidemia 2020-09-16 no assertion criteria provided clinical testing

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