ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp)

gnomAD frequency: 0.00280  dbSNP: rs148765730
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697370 SCV000717494 benign not provided 2019-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315908 SCV000848572 benign Inborn genetic diseases 2016-10-04 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Invitae RCV000875118 SCV001017398 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935655 SCV004748234 benign ATP7A-related condition 2019-05-31 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001834937 SCV002089098 benign Menkes kinky-hair syndrome 2019-12-12 no assertion criteria provided clinical testing

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