ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.561C>T (p.Ser187=)

gnomAD frequency: 0.00008  dbSNP: rs145057852
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000830858 SCV000972596 likely benign not provided 2018-06-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001083919 SCV001053056 likely benign Propionic acidemia 2023-12-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001083919 SCV001429790 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. RCV001083919 SCV001460368 likely benign Propionic acidemia 2020-04-22 no assertion criteria provided clinical testing

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