ClinVar Miner

Submissions for variant NM_014889.4(PITRM1):c.2423del (p.Lys808fs)

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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 RCV004697962 SCV005197147 likely pathogenic not provided 2024-01-05 criteria provided, single submitter clinical testing

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