ClinVar Miner

Submissions for variant NM_020778.5(ALPK3):c.168C>T (p.His56=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002409666 SCV002672161 likely benign Cardiovascular phenotype 2019-08-12 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.
GeneDx RCV002473374 SCV002770048 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this variant does not alter splicing
Labcorp Genetics (formerly Invitae), Labcorp RCV002473374 SCV003489634 likely benign not provided 2024-12-17 criteria provided, single submitter clinical testing

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