ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.3028T>A (p.Phe1010Ile)

dbSNP: rs1602264353
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990827 SCV001141873 uncertain significance Intellectual disability, X-linked 1 2019-05-28 criteria provided, single submitter clinical testing

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