ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.195_197delinsAA (p.Ala66fs)

dbSNP: rs2483385755
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004545898 SCV004231762 likely pathogenic Hypophosphatemic rickets, autosomal recessive, 2 2024-01-12 criteria provided, single submitter clinical testing

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