ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) (rs146651049)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725408 SCV000336753 uncertain significance not provided 2015-11-18 criteria provided, single submitter clinical testing
Invitae RCV001080192 SCV000639991 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000725408 SCV000719203 benign not provided 2020-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718172 SCV000849034 likely benign History of neurodevelopmental disorder 2017-02-13 criteria provided, single submitter clinical testing Other strong data supporting benign classification
Natera, Inc. RCV001080192 SCV001457715 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2020-09-16 no assertion criteria provided clinical testing

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