ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) (rs121918009)

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Total submissions: 6
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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 RCV000224376 SCV000280657 pathogenic not provided 2016-11-04 criteria provided, single submitter clinical testing
Counsyl RCV000014663 SCV000485319 likely pathogenic Infantile hypophosphatasia 2015-11-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763301 SCV000893966 pathogenic Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000014663 SCV000034918 pathogenic Infantile hypophosphatasia 1993-07-01 no assertion criteria provided literature only
GeneReviews RCV000207270 SCV000262614 pathogenic Hypophosphatasia 2016-02-04 no assertion criteria provided literature only
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000786923 SCV000925824 pathogenic Adult hypophosphatasia 2018-12-12 no assertion criteria provided clinical testing

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