ClinVar Miner

Submissions for variant NM_003995.4(NPR2):c.2712+11_2712+19del

dbSNP: rs58759471
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000352779 SCV000479930 benign Acromesomelic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515146 SCV001723158 benign Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome 2025-02-03 criteria provided, single submitter clinical testing

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