ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.1383C>T (p.Asp461=)

gnomAD frequency: 0.00039  dbSNP: rs112847374
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000914521 SCV001059699 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000914521 SCV005271408 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001272483 SCV001454545 benign Achromatopsia 2020-09-16 no assertion criteria provided clinical testing

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