ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3774delinsATGACTGG (p.Ser1258delinsArgTer)

dbSNP: rs797045383
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195218 SCV000246716 pathogenic Menkes kinky-hair syndrome 2013-02-08 criteria provided, single submitter clinical testing

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