ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.1387-15del

dbSNP: rs752215820
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001582691 SCV001818255 likely benign not provided 2019-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000200300 SCV000250858 benign not specified 2015-03-03 flagged submission clinical testing This variant was found in TAADV2-PANCARD,TAAD,TAADV2-1,TGFBR1

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