ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.195G>C (p.Gly65=) (rs765437517)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475511 SCV000562739 likely benign Juvenile polyposis syndrome 2018-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564435 SCV000668355 likely benign Hereditary cancer-predisposing syndrome 2017-06-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000855611 SCV000698314 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
GeneDx RCV000586830 SCV000974949 likely benign not provided 2018-06-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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