ClinVar Miner

Submissions for variant NM_001033046.4(CYBC1):c.145C>T (p.Leu49Phe)

gnomAD frequency: 0.01292  dbSNP: rs72857481
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 RCV001521794 SCV001731199 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001521794 SCV005254543 benign not provided criteria provided, single submitter not provided

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