ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.682C>T (p.His228Tyr)

dbSNP: rs886050431
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000360985 SCV000386430 uncertain significance Revesz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000265041 SCV000386431 uncertain significance Dyskeratosis Congenita, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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