ClinVar Miner

Submissions for variant NM_015205.3(ATP11A):c.2637C>T (p.Ile879=)

gnomAD frequency: 0.00041  dbSNP: rs142674466
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000891658 SCV001035484 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000891658 SCV005229886 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003975635 SCV004786782 likely benign ATP11A-related disorder 2023-12-29 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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