ClinVar Miner

Submissions for variant NM_015650.4(TRAF3IP1):c.1352T>A (p.Leu451His)

dbSNP: rs1559369181
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Disease Group, Clinical Genetics, Karolinska Institutet RCV000754966 SCV000788392 uncertain significance Ellis-van Creveld syndrome 2018-05-01 criteria provided, single submitter research

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