ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.2441-8C>G

gnomAD frequency: 0.00026  dbSNP: rs375370312
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 RCV000908604 SCV001053379 likely benign not provided 2025-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000908604 SCV001153322 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing SPEG: BP4

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