ClinVar Miner

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

dbSNP: rs796563569
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000262764 SCV000386960 uncertain significance Cleft Lip +/- Cleft Palate, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284761 SCV000386961 uncertain significance Orofacial cleft 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000260248 SCV000386962 uncertain significance Syndromic Microphthalmia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000299171 SCV000386963 uncertain significance BMP4-Related Syndromic Microphthalmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000260248 SCV000386972 uncertain significance Syndromic Microphthalmia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000299171 SCV000386973 uncertain significance BMP4-Related Syndromic Microphthalmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284761 SCV000386974 uncertain significance Orofacial cleft 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000262764 SCV000386975 uncertain significance Cleft Lip +/- Cleft Palate, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001723897 SCV001949537 benign not provided 2019-08-15 criteria provided, single submitter clinical testing

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