ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1483A>G (p.Thr495Ala)

dbSNP: rs2149087878
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002263559 SCV002546184 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing ATP7A: PM2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004763348 SCV005374412 uncertain significance Menkes kinky-hair syndrome 2024-09-22 criteria provided, single submitter clinical testing

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