ClinVar Miner

Submissions for variant NM_005321.3(H1-4):c.425delinsAG (p.Thr142fs)

dbSNP: rs1581429431
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital RCV000984021 SCV000925234 pathogenic Rahman syndrome 2019-05-01 criteria provided, single submitter research
GeneReviews RCV000984021 SCV001468685 not provided Rahman syndrome no assertion provided literature only

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