ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1390C>T (p.Leu464=)

gnomAD frequency: 0.00001  dbSNP: rs755494717
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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 RCV002197351 SCV002358485 likely benign MHC class I deficiency 2021-05-08 criteria provided, single submitter clinical testing

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