ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr) (rs1569549841)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718918 SCV000849782 likely benign History of neurodevelopmental disorder 2017-10-04 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);Structural Evidence
Mendelics RCV000990879 SCV001141931 likely benign Menkes kinky-hair syndrome 2019-05-28 criteria provided, single submitter clinical testing

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