ClinVar Miner

Submissions for variant NM_001039958.2(MESP2):c.373C>G (p.Leu125Val)

dbSNP: rs71647806
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005494 SCV000025676 pathogenic Spondylocostal dysostosis 2, autosomal recessive 2008-06-01 no assertion criteria provided literature only
GeneReviews RCV000005494 SCV000055732 pathologic Spondylocostal dysostosis 2, autosomal recessive 2010-08-05 no assertion criteria provided curation Converted during submission to Pathogenic.

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