ClinVar Miner

Submissions for variant NM_003995.4(NPR2):c.493del (p.Arg165fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV003232887 SCV003929422 likely pathogenic Acromesomelic dysplasia 1, Maroteaux type 2023-04-26 criteria provided, single submitter clinical testing

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