ClinVar Miner

Submissions for variant NM_001015880.2(PAPSS2):c.381+21_381+24dup

dbSNP: rs367885911
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203135 SCV000257742 benign not specified 2015-05-11 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573954 SCV001800574 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573954 SCV001973474 likely benign not provided no assertion criteria provided clinical testing

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