ClinVar Miner

Submissions for variant NC_000002.12:g.(?_202513709)_(202520211_?)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 RCV000817276 SCV000957826 pathogenic Pulmonary hypertension, primary, 1 2018-09-06 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 4-7 of the BMPR2 gene. It preserves the integrity of the reading frame. Similar deletions of exons 4-7 has been observed in individuals affected with pulmonary arterial hypertension (PMID: 26387786, Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001388556 SCV001589575 pathogenic Primary pulmonary hypertension 2018-08-30 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 4-7 of the BMPR2 gene. It preserves the integrity of the reading frame. Similar deletions of exons 4-7 has been observed in individuals affected with pulmonary arterial hypertension (PMID: 26387786, Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. For these reasons, this variant has been classified as Pathogenic.

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