ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.154C>T (p.Arg52Cys)

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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 RCV002637793 SCV003518244 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002637792 SCV003700622 uncertain significance Inborn genetic diseases 2021-07-09 criteria provided, single submitter clinical testing The c.154C>T (p.R52C) alteration is located in exon 1 (coding exon 1) of the EVC gene. This alteration results from a C to T substitution at nucleotide position 154, causing the arginine (R) at amino acid position 52 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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