ClinVar Miner

Submissions for variant NC_000002.11:g.(?_203383525)_(203384944_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004582425 SCV005067786 pathogenic Primary pulmonary hypertension 2023-12-20 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 6-7 of the BMPR2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). A similar copy number variant has been observed in individual(s) with pulmonary hypertension (PMID: 24853021, 29743074). For these reasons, this variant has been classified as Pathogenic.

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