ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.2248dup (p.Ser750fs)

dbSNP: rs587776797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000014565 SCV000608350 pathogenic Hypophosphatemic rickets, autosomal recessive, 2 2017-09-19 criteria provided, single submitter clinical testing
OMIM RCV000014565 SCV000034819 pathogenic Hypophosphatemic rickets, autosomal recessive, 2 2010-02-12 no assertion criteria provided literature only

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