ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1324_1326CGT[1] (p.Arg443del) (rs864622075)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205785 SCV000259267 uncertain significance Juvenile polyposis syndrome 2015-07-03 criteria provided, single submitter clinical testing This variant, c.1323_1325delTCG, is a complex sequence change that results in the deletion of 1 amino acids of the BMPR1A protein (p.Arg442del). This variant has not been published in the literature and is not present in population databases. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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