ClinVar Miner

Submissions for variant NM_145046.5(CALR3):c.848C>T (p.Thr283Ile)

gnomAD frequency: 0.00138  dbSNP: rs75099211
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467356 SCV000561627 benign Hypertrophic cardiomyopathy 19 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618962 SCV000739904 uncertain significance Cardiovascular phenotype 2013-07-10 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003227765 SCV003924136 uncertain significance Hypertrophic cardiomyopathy 2021-03-30 criteria provided, single submitter clinical testing CALR3 NM_145046.4 exon 7 p.Thr283Ile (c.848C>T): This variant has not been reported in the literature but is present in 0.5% (126/24970) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/19-16593331-G-A). This variant is present in ClinVar (Variation ID:416239). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001700129 SCV005039598 likely benign not specified 2024-03-11 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700129 SCV001920803 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703179 SCV001932970 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001703179 SCV001969389 likely benign not provided no assertion criteria provided clinical testing

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