ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1707+1G>A

dbSNP: rs1569549753
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012553 SCV000032787 pathogenic Menkes kinky-hair syndrome 2000-04-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000012553 SCV004011768 uncertain significance Menkes kinky-hair syndrome 2016-01-06 no assertion criteria provided literature only

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