ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3134C>T (p.Ala1045Val)

gnomAD frequency: 0.00002  dbSNP: rs750108569
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671919 SCV000796953 uncertain significance Ellis-van Creveld syndrome 2018-01-08 criteria provided, single submitter clinical testing
GeneDx RCV003159150 SCV003852953 likely pathogenic not provided 2023-03-29 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 19876929, 17024374)

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