ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.2608-1G>A

gnomAD frequency: 0.00001  dbSNP: rs149828062
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513679 SCV000609711 likely pathogenic not provided 2017-07-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496980 SCV002816099 likely pathogenic Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Obesity; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome 2021-07-20 criteria provided, single submitter clinical testing

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