ClinVar Miner

Submissions for variant NC_000002.11:g.(?_203378422)_(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 RCV003105669 SCV003793380 pathogenic Primary pulmonary hypertension 2021-11-02 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 4-7 of the BMPR2 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individuals with pulmonary arterial hypertension (PMID: 26387786; Invitae). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.

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