ClinVar Miner

Submissions for variant NM_001039958.2(MESP2):c.549_584del (p.180_181QG[7])

dbSNP: rs749710849
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247765 SCV000306147 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514201 SCV000609895 likely benign not provided 2017-03-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514201 SCV004130887 benign not provided 2023-05-01 criteria provided, single submitter clinical testing MESP2: BS1, BS2
Natera, Inc. RCV001835742 SCV002089863 benign Spondylocostal dysostosis 2, autosomal recessive 2019-09-25 no assertion criteria provided clinical testing

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