ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2337C>T (p.Cys779=)

gnomAD frequency: 0.00006  dbSNP: rs61749430
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 RCV001450874 SCV001654492 likely benign not provided 2024-03-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587159 SCV005076949 likely benign not specified 2024-04-29 criteria provided, single submitter clinical testing

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