ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.18C>T (p.Ser6=)

gnomAD frequency: 0.00207  dbSNP: rs556910528
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173575 SCV000224699 uncertain significance not provided 2015-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000173575 SCV000984243 likely benign not provided 2020-10-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080231 SCV001097243 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000173575 SCV001157784 benign not provided 2022-04-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000173575 SCV001962555 likely benign not provided 2021-08-01 criteria provided, single submitter clinical testing

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