ClinVar Miner

Submissions for variant NM_016529.6(ATP8A2):c.3075A>G (p.Lys1025=)

gnomAD frequency: 0.00327  dbSNP: rs62636611
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202917 SCV000258110 likely benign not specified 2015-07-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000418598 SCV000511385 likely benign not provided 2017-01-09 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000202917 SCV000729994 likely benign not specified 2017-06-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000418598 SCV001096061 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000418598 SCV001247629 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing ATP8A2: BP4, BP7, BS2

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