ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile) (rs281875325)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000022423 SCV000043712 pathogenic Baraitser-Winter Syndrome 2 2012-02-26 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059723 SCV000091293 not provided not provided no assertion provided not provided
GeneReviews RCV000022423 SCV000257379 pathogenic Baraitser-Winter Syndrome 2 2015-09-17 no assertion criteria provided literature only Cutaneous lymphoma was diagnosed at age 19 years in an individual with BWCFF and the germline ACTG1 pathogenic variant p.Thr120Ile.

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