ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.369C>T (p.Pro123=)

gnomAD frequency: 0.00171  dbSNP: rs199980715
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000960538 SCV001107528 benign Hyper-IgM syndrome type 2 2024-01-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707506 SCV005230441 benign not provided criteria provided, single submitter not provided

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