ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val)

gnomAD frequency: 0.01455  dbSNP: rs79079368
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000202480 SCV000460163 likely benign Arterial calcification, generalized, of infancy, 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000305235 SCV000460164 likely benign Hypophosphatemic rickets, autosomal recessive, 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Eurofins Ntd Llc (ga) RCV000733937 SCV000862043 benign not specified 2018-06-28 criteria provided, single submitter clinical testing
Invitae RCV000968099 SCV001115531 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000968099 SCV001892783 benign not provided 2019-04-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 12881724, 21228398, 20981092, 22995991)
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi RCV001843482 SCV002102784 likely pathogenic Hypophosphatemic rickets 2022-03-07 criteria provided, single submitter clinical testing
GeneReviews RCV000202480 SCV000195556 not provided Arterial calcification, generalized, of infancy, 1 no assertion provided literature only

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