ClinVar Miner

Submissions for variant NM_170665.4(ATP2A2):c.1010del (p.Pro337fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003388895 SCV004100791 likely pathogenic Keratosis follicularis 2023-09-28 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP

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