ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2258G>A (p.Arg753Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002885950 SCV003242277 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002885949 SCV003657863 uncertain significance Inborn genetic diseases 2021-08-10 criteria provided, single submitter clinical testing The c.2258G>A (p.R753Q) alteration is located in exon 15 (coding exon 15) of the EVC gene. This alteration results from a G to A substitution at nucleotide position 2258, causing the arginine (R) at amino acid position 753 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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