ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.834C>T (p.Tyr278=)

dbSNP: rs1230919713
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001017592 SCV001178691 likely benign Hereditary cancer-predisposing syndrome 2018-03-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV001017592 SCV001357868 likely benign Hereditary cancer-predisposing syndrome 2019-05-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549456 SCV003330082 likely benign Juvenile polyposis syndrome 2023-08-06 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002549456 SCV005405873 benign Juvenile polyposis syndrome 2024-08-05 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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