ClinVar Miner

Submissions for variant NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11])

dbSNP: rs56192595
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Total submissions: 6
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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 RCV000389256 SCV000296985 likely benign not specified 2015-07-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000389256 SCV000331709 benign not specified 2018-06-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000360187 SCV000394383 benign Spondylocostal dysostosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000947646 SCV001093832 benign not provided 2018-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000947646 SCV001936806 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272528 SCV001454608 benign Spondylocostal dysostosis 2, autosomal recessive 2020-09-16 no assertion criteria provided clinical testing

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