ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1595A>G (p.Gln532Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV004764413 SCV005373805 uncertain significance Loeys-Dietz syndrome 2 2024-09-22 criteria provided, single submitter clinical testing

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