ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) (rs138958687)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192884 SCV000246691 likely pathogenic Menkes kinky-hair syndrome 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV001085085 SCV000639977 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999938 SCV000885040 likely benign not specified 2019-02-15 criteria provided, single submitter clinical testing
Mendelics RCV000192884 SCV001141934 uncertain significance Menkes kinky-hair syndrome 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000757015 SCV001150391 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing

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