ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) (rs144532809)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000951820 SCV001098259 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000459 SCV001157302 likely benign not specified 2018-11-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001148849 SCV001309762 uncertain significance Ellis-van Creveld syndrome 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.

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