ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2375C>T (p.Ala792Val)

gnomAD frequency: 0.00001  dbSNP: rs782770209
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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 RCV000659169 SCV000780985 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing
Invitae RCV002536336 SCV002948352 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-08-28 criteria provided, single submitter clinical testing

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