ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.465C>T (p.His155=)

gnomAD frequency: 0.00086  dbSNP: rs56016563
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642375 SCV000764044 benign MHC class I deficiency 2023-12-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001700434 SCV001926921 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727787 SCV001970148 benign not specified no assertion criteria provided clinical testing

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