ClinVar Miner

Submissions for variant NM_015330.6(SPECC1L):c.59C>T (p.Thr20Met)

gnomAD frequency: 0.00006  dbSNP: rs144546045
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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 RCV002080755 SCV002380809 likely benign not provided 2021-10-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004753495 SCV005350847 likely benign SPECC1L-related disorder 2024-08-26 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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