ClinVar Miner

Submissions for variant NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro) (rs12647691)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000284632 SCV000451396 benign Hyaline fibromatosis syndrome 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.
Mendelics RCV000284632 SCV001136747 benign Hyaline fibromatosis syndrome 2019-05-28 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000284632 SCV001775144 benign Hyaline fibromatosis syndrome 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001618625 SCV001843116 benign not provided 2019-09-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22315420)

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