ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.827T>C (p.Leu276Pro)

dbSNP: rs1827646767
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280800 SCV001468134 likely pathogenic Loeys-Dietz syndrome 1 2020-06-16 no assertion criteria provided clinical testing

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