ClinVar Miner

Submissions for variant NM_003995.4(NPR2):c.999C>T (p.Ile333=)

gnomAD frequency: 0.00029  dbSNP: rs28764009
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951633 SCV001098047 benign Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome 2024-01-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702534 SCV005204231 likely benign not specified 2024-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712940 SCV005272687 benign not provided criteria provided, single submitter not provided

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