ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.313+11_313+15del

gnomAD frequency: 0.00163  dbSNP: rs771304080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195975 SCV001366402 benign Hypophosphatemic rickets, autosomal recessive, 2 2019-01-30 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
Fulgent Genetics, Fulgent Genetics RCV002504223 SCV002806536 benign Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Obesity; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome 2021-08-09 criteria provided, single submitter clinical testing

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