ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1677T>C (p.Ala559=)

gnomAD frequency: 0.00006  dbSNP: rs761646676
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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 RCV000938098 SCV001083899 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-04-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711427 SCV005256668 likely benign not provided criteria provided, single submitter not provided

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