ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) (rs116099212)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176440 SCV000228096 benign not specified 2014-12-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224494 SCV000281126 likely benign not provided 2015-09-29 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000224494 SCV001012437 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000989101 SCV001139298 benign Fraser syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001110834 SCV001268316 likely benign FRASER SYNDROME 2 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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