ClinVar Miner

Submissions for variant NC_000015.10:g.84816855G>A

gnomAD frequency: 0.00117  dbSNP: rs28408840
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696972 SCV000582624 likely benign not provided 2021-07-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001696972 SCV002325346 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002383947 SCV002688967 likely benign Cardiovascular phenotype 2019-07-01 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.
Breakthrough Genomics, Breakthrough Genomics RCV001696972 SCV005213340 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004541542 SCV004767209 likely benign ALPK3-related disorder 2023-05-01 no assertion criteria provided 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).

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