ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.2429T>C (p.Leu810Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005037896 SCV005666726 uncertain significance Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome; Inherited obesity 2024-02-12 criteria provided, single submitter clinical testing

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