ClinVar Miner

Submissions for variant NM_005630.3(SLCO2A1):c.1370C>T (p.Pro457Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV003316898 SCV004015137 uncertain significance Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 criteria provided, single submitter clinical testing
OMIM RCV003316898 SCV004562028 pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 2024-02-13 no assertion criteria provided literature only

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