ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.860G>A (p.Arg287His) (rs121912768)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644620 SCV000766322 benign Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000989225 SCV001139458 likely benign Microphthalmia with brain and digit anomalies 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000019278 SCV001268162 likely benign Orofacial cleft 11 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000989225 SCV001268163 benign Microphthalmia with brain and digit anomalies 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
OMIM RCV000019278 SCV000039566 pathogenic Orofacial cleft 11 2009-03-01 no assertion criteria provided literature only

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