ClinVar Miner

Submissions for variant NM_138959.3(VANGL1):c.285C>T (p.Ile95=)

gnomAD frequency: 0.00060  dbSNP: rs140451005
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000909235 SCV001054031 likely benign not provided 2018-05-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001099257 SCV001255699 benign Neural tube defect 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001101255 SCV001257854 benign Sacral defect with anterior meningocele 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.

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