ClinVar Miner

Submissions for variant NC_000002.12:g.(?_202513699)_(202542467_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707912 SCV000837022 pathogenic Pulmonary hypertension, primary, 1 2018-04-17 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 4-10 of the BMPR2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with BMPR2-related disease. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001388554 SCV001589573 pathogenic Primary pulmonary hypertension 2018-04-03 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 4-10 of the BMPR2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with BMPR2-related disease. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). For these reasons, this variant has been classified as Pathogenic.

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