ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) (rs145277501)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000391787 SCV000332630 likely benign not specified 2018-06-02 criteria provided, single submitter clinical testing
Invitae RCV000878363 SCV001021259 likely 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 RCV000391787 SCV001157301 likely benign not specified 2019-03-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001155559 SCV001316996 likely benign Ellis-van Creveld 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). 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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