ClinVar Miner

Submissions for variant NM_006579.3(EBP):c.219G>A (p.Gly73=)

gnomAD frequency: 0.00001  dbSNP: rs781939301
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585107 SCV000693327 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000585107 SCV002405072 benign not provided 2022-04-11 criteria provided, single submitter clinical testing

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