ClinVar Miner

Submissions for variant NM_003995.4(NPR2):c.60C>T (p.Pro20=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002947592 SCV003265083 likely benign Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome 2023-04-25 criteria provided, single submitter clinical testing

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