ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4352del (p.Gly1451fs)

dbSNP: rs1569550376
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012554 SCV000032788 pathogenic Cutis laxa, X-linked 2001-08-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000012554 SCV004011880 uncertain significance Cutis laxa, X-linked 2016-01-06 no assertion criteria provided literature only

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