ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.357T>C (p.Ile119=)

gnomAD frequency: 0.00005  dbSNP: rs567203939
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463746 SCV000560350 likely benign Bardet-Biedl syndrome 2023-12-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932751 SCV004749896 likely benign TTC8-related condition 2021-05-20 criteria provided, single submitter 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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