ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4006-11T>A

gnomAD frequency: 0.00001  dbSNP: rs1325784914
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752201 SCV001988214 uncertain significance not provided 2020-10-19 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV002538772 SCV003033483 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-08-22 criteria provided, single submitter clinical testing

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