ClinVar Miner

Submissions for variant NC_000010.10:g.(?_88598623)_(88649987_?)dup

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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 RCV000550958 SCV000632673 uncertain significance Generalized juvenile polyposis/juvenile polyposis coli 2017-04-28 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing the promoter and exons 3-4 of the BMPR1A gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 4 of the BMPR1A gene. Duplication of BMPR1A exons 3-4 has not been reported in the literature in individuals with a BMPR1A-related disorder. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of this duplication is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on BMPR1A protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001304734 SCV001494027 uncertain significance Juvenile polyposis syndrome 2017-04-18 criteria provided, single submitter clinical testing In summary, the exact genomic location of this variant is unknown and the impact of this duplication on BMPR1A protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of this duplication is currently unknown. Duplication of BMPR1A exons 3-4 has not been reported in the literature in individuals with a BMPR1A-related disorder. This variant is a gross duplication of the genomic region encompassing the promoter and exons 3-4 of the BMPR1A gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 4 of the BMPR1A gene.

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