ClinVar Miner

Submissions for variant NM_005857.4(ZMPSTE24):c.-172A>C

gnomAD frequency: 0.00076  dbSNP: rs151221982
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000290774 SCV000357409 uncertain significance Mandibuloacral dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000345711 SCV000357410 uncertain significance Lethal tight skin contracture syndrome 2016-06-14 criteria provided, single submitter clinical testing

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