ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.362A>G (p.His121Arg)

gnomAD frequency: 0.00015  dbSNP: rs376960358
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000952724 SCV001099246 likely benign Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2023-11-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001114025 SCV001271849 uncertain significance 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV003389749 SCV004134139 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing BMP4: BS1
PreventionGenetics, part of Exact Sciences RCV003974850 SCV004793050 likely benign BMP4-related condition 2022-03-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
OMIM RCV000022458 SCV000043747 pathogenic Microphthalmia with brain and digit anomalies 2011-10-01 no assertion criteria provided literature only

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