ClinVar Miner

Submissions for variant NM_002591.4(PCK1):c.7C>T (p.Pro3Ser)

gnomAD frequency: 0.00091  dbSNP: rs147120329
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000970554 SCV001118140 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000970554 SCV001153501 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001138455 SCV001298510 likely benign Phosphoenolpyruvate carboxykinase deficiency, cytosolic 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Baylor Genetics RCV001138455 SCV001522531 uncertain significance Phosphoenolpyruvate carboxykinase deficiency, cytosolic 2020-11-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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