ClinVar Miner

Submissions for variant NM_001015880.2(PAPSS2):c.1167C>T (p.Asp389=)

gnomAD frequency: 0.00064  dbSNP: rs145242127
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000312423 SCV000342183 uncertain significance not provided 2016-06-22 criteria provided, single submitter clinical testing
Invitae RCV001498844 SCV001703597 likely benign Spondyloepimetaphyseal dysplasia, PAPSS2 type 2021-10-25 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000312423 SCV002036387 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000312423 SCV002037871 likely benign not provided no assertion criteria provided clinical testing

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