ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr)

gnomAD frequency: 0.00060  dbSNP: rs150526992
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001089200 SCV000762513 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000842321 SCV000984330 benign not provided 2021-06-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 33151932)
CeGaT Center for Human Genetics Tuebingen RCV000842321 SCV001150387 uncertain significance not provided 2017-09-01 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252186 SCV002522966 benign See cases 2021-12-30 criteria provided, single submitter clinical testing ACMG classification criteria: PP3, BS1, BS2
Ambry Genetics RCV002449009 SCV002682669 likely benign Inborn genetic diseases 2019-12-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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