ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.*148_*149insT

dbSNP: rs796563569
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000349187 SCV000386968 uncertain significance Cleft Lip +/- Cleft Palate, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391547 SCV000386969 uncertain significance BMP4-Related Syndromic Microphthalmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000314154 SCV000386970 uncertain significance Orofacial cleft 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000371315 SCV000386971 uncertain significance Syndromic Microphthalmia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001683260 SCV001903690 benign not provided 2019-08-21 criteria provided, single submitter clinical testing

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