ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.1164+9A>G

gnomAD frequency: 0.00001  dbSNP: rs571952564
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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 RCV000885188 SCV001028618 likely benign not provided 2023-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005036250 SCV005666677 uncertain significance Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome; Inherited obesity 2024-04-15 criteria provided, single submitter clinical testing

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