ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1032C>T (p.His344=)

dbSNP: rs1589291699
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001192301 SCV001360331 likely benign Hereditary cancer-predisposing syndrome 2019-12-04 criteria provided, single submitter clinical testing
Invitae RCV001424749 SCV001627350 likely benign Juvenile polyposis syndrome 2017-12-01 criteria provided, single submitter clinical testing

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