ClinVar Miner

Submissions for variant NM_001080449.3(DNA2):c.68C>T (p.Ala23Val)

gnomAD frequency: 0.00071  dbSNP: rs200467869
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000871523 SCV001013195 likely benign not provided 2025-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000871523 SCV001250230 uncertain significance not provided 2020-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000871523 SCV001795252 uncertain significance not provided 2025-02-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function
Genetic Services Laboratory, University of Chicago RCV001817007 SCV002065103 uncertain significance not specified 2019-07-09 criteria provided, single submitter clinical testing

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