ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.1398C>A (p.Pro466=)

gnomAD frequency: 0.00004  dbSNP: rs374008463
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002093651 SCV002387228 likely benign MHC class I deficiency 2022-07-29 criteria provided, single submitter clinical testing

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