ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.344-74del

dbSNP: rs193922675
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030539 SCV000053210 uncertain Loeys-Dietz syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.

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