ClinVar Miner

Submissions for variant NM_003823.4(TNFRSF6B):c.785C>T (p.Thr262Met)

gnomAD frequency: 0.00012  dbSNP: rs766509761
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665359 SCV000789469 uncertain significance Dyskeratosis congenita, autosomal recessive 5 2017-02-01 criteria provided, single submitter clinical testing
Invitae RCV002060813 SCV002323421 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing

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