ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1392G>A (p.Lys464=)

gnomAD frequency: 0.00001  dbSNP: rs1362654881
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002124067 SCV002444458 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-10-29 criteria provided, single submitter clinical testing

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