ClinVar Miner

Submissions for variant NM_001805.4(CEBPE):c.240C>T (p.Tyr80=)

dbSNP: rs2140292130
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001446304 SCV001649348 likely benign Specific granule deficiency 2019-10-31 criteria provided, single submitter clinical testing

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