ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.2715+18G>C

gnomAD frequency: 0.02370  dbSNP: rs117345300
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248536 SCV000310020 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001564310 SCV001787457 likely benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001564310 SCV002425029 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001564310 SCV005212889 likely benign not provided criteria provided, single submitter not provided

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