ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1315+7C>T

gnomAD frequency: 0.00001  dbSNP: rs1252318929
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596511 SCV000704935 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing
Invitae RCV002062049 SCV002362628 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-09-03 criteria provided, single submitter clinical testing

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