ClinVar Miner

Submissions for variant NM_004357.5(CD151):c.240C>T (p.Cys80=)

gnomAD frequency: 0.00248  dbSNP: rs34726520
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000886806 SCV001030333 benign not provided 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000886806 SCV001894888 benign not provided 2019-12-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000886806 SCV004128681 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing CD151: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000886806 SCV005319654 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004758067 SCV005349296 benign CD151-related disorder 2024-04-02 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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