ClinVar Miner

Submissions for variant NM_033026.6(PCLO):c.5632A>G (p.Ile1878Val)

gnomAD frequency: 0.00262  dbSNP: rs150515688
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822215 SCV002069916 uncertain significance not specified 2018-09-27 criteria provided, single submitter clinical testing
Invitae RCV002074258 SCV002401505 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002541957 SCV003754645 likely benign Inborn genetic diseases 2022-01-05 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.

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