ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.511A>T (p.Lys171Ter)

dbSNP: rs1805101
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomenon, Inc, Genomenon, Inc RCV002273882 SCV002558757 pathogenic Arterial calcification, generalized, of infancy, 1; Hypophosphatemic rickets, autosomal recessive, 2 2022-03-16 criteria provided, single submitter research

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