ClinVar Miner

Submissions for variant NM_004357.5(CD151):c.456+9G>A

gnomAD frequency: 0.00039  dbSNP: rs375059668
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002173328 SCV002343008 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498153 SCV002808822 likely benign Epidermolysis bullosa simplex 7, with nephropathy and deafness; RAPH BLOOD GROUP SYSTEM 2021-12-05 criteria provided, single submitter clinical testing

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