ClinVar Miner

Submissions for variant NM_001203.3(BMPR1B):c.430T>C (p.Leu144=)

gnomAD frequency: 0.00031  dbSNP: rs55980670
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536098 SCV000638213 likely benign Type A2 brachydactyly; Acromesomelic dysplasia 3 2024-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003979974 SCV004792995 likely benign BMPR1B-related condition 2023-11-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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