ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3732G>A (p.Leu1244=)

gnomAD frequency: 0.00003  dbSNP: rs774269538
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000882185 SCV001025412 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432873 SCV004147587 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing EVC2: BP4, BP7

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