ClinVar Miner

Submissions for variant NM_001805.4(CEBPE):c.234C>T (p.Pro78=)

gnomAD frequency: 0.00837  dbSNP: rs114913626
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 RCV000636646 SCV000758085 benign Specific granule deficiency 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707388 SCV005232814 benign not provided criteria provided, single submitter not provided

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