ClinVar Miner

Submissions for variant NM_015001.3(SPEN):c.6226_6227del (p.Lys2076fs)

dbSNP: rs2148741011
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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 RCV001530939 SCV001468533 pathogenic not provided 2020-12-03 criteria provided, single submitter research
Molecular Genetics Lab, CHRU Brest RCV003883172 SCV004697709 uncertain significance Radio-Tartaglia syndrome criteria provided, single submitter clinical testing

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