ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.63C>T (p.Val21=)

gnomAD frequency: 0.00040  dbSNP: rs149973695
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510866 SCV001718014 benign Primary pulmonary hypertension 2021-09-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000866121 SCV002048045 benign not provided 2021-09-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501256 SCV002805120 likely benign Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 2022-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169125 SCV003896538 likely benign Inborn genetic diseases 2023-01-01 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.

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