ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.3689del (p.Ala1230fs)

dbSNP: rs1602210960
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990872 SCV001141924 pathogenic X-linked intellectual disability, Cantagrel type 2019-05-28 criteria provided, single submitter clinical testing

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