ClinVar Miner

Submissions for variant NM_012238.5(SIRT1):c.192_215del (p.Arg65_Ala72del)

dbSNP: rs550763057
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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 RCV002926891 SCV003256164 benign not provided 2024-02-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003926511 SCV004737602 likely benign SIRT1-related disorder 2023-05-22 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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