ClinVar Miner

Submissions for variant NM_005505.5(SCARB1):c.63C>T (p.Cys21=)

gnomAD frequency: 0.01442  dbSNP: rs10396208
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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 RCV000970878 SCV001118483 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000970878 SCV005237075 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003972903 SCV004790203 likely benign SCARB1-related disorder 2020-06-30 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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