ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.531del (p.His179fs)

dbSNP: rs1555498565
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000598696 SCV000700233 not provided Poikiloderma with neutropenia no assertion provided literature only c.531delA was identified in 12 unrelated Turkish families
OMIM RCV000598696 SCV002039155 pathogenic Poikiloderma with neutropenia 2021-12-20 no assertion criteria provided literature only

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