ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) (rs138728350)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535344 SCV000634710 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734266 SCV000862391 likely benign not specified 2018-08-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001151787 SCV001312957 likely benign Ellis-van Creveld syndrome 2017-09-24 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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