ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.34C>G (p.Arg12Gly)

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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 RCV003847916 SCV004643964 likely benign not provided 2023-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005038568 SCV005667157 uncertain significance Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome; Inherited obesity 2024-06-11 criteria provided, single submitter clinical testing

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