ClinVar Miner

Submissions for variant NM_000138.5:c.164+10444_347-5190del

Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004696727 SCV005199763 pathogenic not provided 2023-09-22 criteria provided, single submitter clinical testing

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