ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.172C>T (p.Pro58Ser)

gnomAD frequency: 0.00005  dbSNP: rs376978188
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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 RCV001443066 SCV001646027 likely benign MHC class I deficiency 2024-01-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707603 SCV005225710 likely benign not provided criteria provided, single submitter not provided

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