ClinVar Miner

Submissions for variant NM_016529.6(ATP8A2):c.1398-13T>G

gnomAD frequency: 0.01012  dbSNP: rs80107486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514520 SCV000609601 likely benign not provided 2017-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514520 SCV001724373 benign not provided 2024-01-21 criteria provided, single submitter clinical testing

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