ClinVar Miner

Submissions for variant NM_004069.6(AP2S1):c.3+41dup

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003221593 SCV003918463 likely benign not provided 2020-07-07 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321983 SCV004026977 benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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