ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.1995C>T (p.Ile665=)

gnomAD frequency: 0.00002  dbSNP: rs746615939
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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 RCV002165967 SCV002422890 likely benign MHC class I deficiency 2022-10-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003951149 SCV004776020 likely benign TAP1-related disorder 2020-02-21 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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