ClinVar Miner

Submissions for variant NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala) (rs104894963)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126382 SCV000169886 benign not specified 2013-04-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000370424 SCV000481811 likely benign Congenital heart defects 1, nonsyndromic, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275713 SCV000481812 likely benign Heterotaxy, visceral, 1, X-linked 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326072 SCV000481813 likely benign VACTERL association with hydrocephaly, X-linked 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514533 SCV000610242 likely benign not provided 2017-04-27 criteria provided, single submitter clinical testing
Invitae RCV000275713 SCV001000657 benign Heterotaxy, visceral, 1, X-linked 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000012192 SCV000032426 uncertain significance Congenital heart defects, multiple types, 1, X-linked 2004-01-01 no assertion criteria provided literature only

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