ClinVar Miner

Submissions for variant NM_003995.4(NPR2):c.2901T>G (p.Ala967=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003788556 SCV004570097 benign Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome 2024-01-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539123 SCV004714977 likely benign NPR2-related disorder 2023-03-14 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).

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