ClinVar Miner

Submissions for variant NM_020778.5(ALPK3):c.2595C>T (p.Pro865=)

gnomAD frequency: 0.00386  dbSNP: rs114957070
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000950460 SCV000530366 likely benign not provided 2021-04-03 criteria provided, single submitter clinical testing
Invitae RCV000950460 SCV001096770 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323638 SCV002609188 likely benign Cardiovascular phenotype 2019-01-18 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000419530 SCV004029618 likely benign not specified 2023-07-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000950460 SCV004184478 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing ALPK3: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004533081 SCV004730724 likely benign ALPK3-related disorder 2019-03-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000419530 SCV001741835 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000419530 SCV001917234 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000950460 SCV001966648 likely benign not provided no assertion criteria provided clinical testing

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