ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) (rs142777869)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000032164 SCV000055743 pathologic Dyskeratosis congenita autosomal dominant 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
Illumina Clinical Services Laboratory,Illumina RCV000350321 SCV000386424 likely benign Revesz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394153 SCV000386425 likely benign Dyskeratosis Congenita, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000545340 SCV000631313 benign Dyskeratosis congenita 2017-10-20 criteria provided, single submitter clinical testing

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