ClinVar Miner

Submissions for variant NM_138959.3(VANGL1):c.542G>A (p.Arg181Gln)

gnomAD frequency: 0.00006  dbSNP: rs761123443
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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 RCV001097606 SCV001253900 uncertain significance Neural tube defect 2017-04-28 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001097607 SCV001253901 uncertain significance Sacral defect with anterior meningocele 2017-04-28 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
OMIM RCV000162248 SCV000212241 risk factor Neural tube defects, susceptibility to 2014-08-19 no assertion criteria provided literature only

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