Submissions for variant NM_004329.3(BMPR1A):c.1474-9A>G

gnomAD frequency: 0.00004  dbSNP: rs372031054

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001391332	SCV000166529	likely benign	Juvenile polyposis syndrome	2025-01-11	criteria provided, single submitter	clinical testing
Counsyl	RCV000123223	SCV000489260	likely benign	Generalized juvenile polyposis/juvenile polyposis coli	2016-09-09	criteria provided, single submitter	clinical testing
GeneDx	RCV001705899	SCV000525994	likely benign	not provided	2020-09-27	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000579977	SCV000682872	likely benign	Hereditary cancer-predisposing syndrome	2016-08-05	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000579977	SCV002528577	likely benign	Hereditary cancer-predisposing syndrome	2020-10-09	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV001391332	SCV004019451	benign	Juvenile polyposis syndrome	2023-03-02	criteria provided, single submitter	clinical testing	This variant is considered benign. Homozygosity has been confirmed in one or more individuals. As homozygosity for pathogenic variants in this gene is generally assumed to result in embryonic lethality, this variant is unlikely to be pathogenic.
All of Us Research Program, National Institutes of Health	RCV001391332	SCV004817841	likely benign	Juvenile polyposis syndrome	2023-12-13	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV005229933	SCV005873015	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing