ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg)

dbSNP: rs781900997
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000918971 SCV001064302 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-12-12 criteria provided, single submitter clinical testing
GeneDx RCV001555413 SCV001776831 likely benign not provided 2021-03-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902981 SCV004719463 likely benign ATP7A-related condition 2019-08-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001825851 SCV002089066 likely benign Menkes kinky-hair syndrome 2020-07-10 no assertion criteria provided clinical testing

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