ClinVar Miner

Submissions for variant NM_024580.6(EFL1):c.3028G>A (p.Val1010Ile)

gnomAD frequency: 0.00721  dbSNP: rs72749527
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000888347 SCV001031977 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000888347 SCV002545297 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing EFL1: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000888347 SCV005291863 benign not provided criteria provided, single submitter not provided

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