ClinVar Miner

Submissions for variant NM_000611.6(CD59):c.54C>T (p.Val18=)

gnomAD frequency: 0.00152  dbSNP: rs2231456
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000913248 SCV001058391 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000913248 SCV005316028 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004756102 SCV005352052 likely benign CD59-related disorder 2024-04-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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