ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.530+12T>C

gnomAD frequency: 0.00003  dbSNP: rs976070262
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000583423 SCV000688279 likely benign Hereditary cancer-predisposing syndrome 2016-10-11 criteria provided, single submitter clinical testing
Counsyl RCV000662574 SCV000785184 likely benign Generalized juvenile polyposis/juvenile polyposis coli 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV001712593 SCV001939311 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061752 SCV002378906 likely benign Juvenile polyposis syndrome 2025-01-30 criteria provided, single submitter clinical testing

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