ClinVar Miner

Submissions for variant NM_020778.5(ALPK3):c.1900C>T (p.Arg634Cys)

gnomAD frequency: 0.00054  dbSNP: rs201086326
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718983 SCV000723916 benign not provided 2021-02-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001718983 SCV002378016 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456368 SCV002738831 benign Cardiovascular phenotype 2019-04-15 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 RCV004525984 SCV005039601 uncertain significance not specified 2024-03-11 criteria provided, single submitter clinical testing

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