ClinVar Miner

Submissions for variant NM_020778.5(ALPK3):c.401G>A (p.Arg134His)

gnomAD frequency: 0.01062  dbSNP: rs34407151
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704323 SCV000527972 benign not provided 2018-07-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803739 SCV002048850 likely benign Cardiomyopathy, familial hypertrophic 27 2023-11-07 criteria provided, single submitter clinical testing
Invitae RCV001704323 SCV002492480 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418298 SCV002724832 benign Cardiovascular phenotype 2019-02-21 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000438158 SCV003928509 likely benign not specified 2023-04-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533060 SCV004749691 benign ALPK3-related disorder 2019-02-28 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000438158 SCV001922248 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000438158 SCV001968143 benign not specified no assertion criteria provided clinical testing

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