ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1254del (p.Asn418fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003334986 SCV004045735 pathogenic Juvenile polyposis syndrome 2023-05-26 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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