ClinVar Miner

Submissions for variant NM_015409.5(EP400):c.5103G>A (p.Pro1701=)

gnomAD frequency: 0.00645  dbSNP: rs116870851
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000950450 SCV001096760 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000950450 SCV004136698 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing EP400: BP4, BP7, BS2

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