ClinVar Miner

Submissions for variant NM_003995.4(NPR2):c.1236G>A (p.Ser412=)

gnomAD frequency: 0.00003  dbSNP: rs146712937
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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 RCV000951639 SCV001098054 likely benign Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome 2024-01-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702535 SCV005205435 likely benign not specified 2024-06-26 criteria provided, single submitter clinical testing

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