ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2449+15del

dbSNP: rs398092136
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250153 SCV000316374 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000378021 SCV000450330 benign Ellis-van Creveld syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001597029 SCV000566422 benign not provided 2018-05-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515075 SCV001723064 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001706399 SCV001876221 benign Curry-Hall syndrome 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000378021 SCV001876222 benign Ellis-van Creveld syndrome 2021-07-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000378021 SCV001456838 benign Ellis-van Creveld syndrome 2020-09-16 no assertion criteria provided clinical testing
GeneDx RCV001597029 SCV001830507 benign not provided 2017-08-07 flagged submission clinical testing

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