ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.*1043A>G

gnomAD frequency: 0.44199  dbSNP: rs7754561
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000372927 SCV000460237 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000280683 SCV000460238 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
OMIM RCV000022719 SCV000044008 risk factor Obesity 2005-02-01 no assertion criteria provided literature only

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