ClinVar Miner

Submissions for variant NM_016529.6(ATP8A2):c.2138T>C (p.Ile713Thr)

gnomAD frequency: 0.00073  dbSNP: rs142872070
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001310678 SCV001500570 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing ATP8A2: BS1
Labcorp Genetics (formerly Invitae), Labcorp RCV001310678 SCV001725559 benign not provided 2024-12-16 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001310678 SCV001954396 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001310678 SCV001972188 uncertain significance not provided no assertion criteria provided clinical testing

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