ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1641G>C (p.Arg547Ser)

gnomAD frequency: 0.35511  dbSNP: rs2066964
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454831 SCV000538580 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV001520151 SCV001729195 benign Pityriasis rubra pilaris; Psoriasis 2 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554820 SCV001776126 benign Pityriasis rubra pilaris 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554821 SCV001776127 benign Psoriasis 2 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001643143 SCV001860531 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000454831 SCV004102115 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 51% of patients studied by a panel of primary immunodeficiencies. Number of patients: 49. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001643143 SCV005248796 benign not provided criteria provided, single submitter not provided
GenomeConnect, ClinGen RCV001643143 SCV002074580 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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