ClinVar Miner

Submissions for variant NM_003823.4(TNFRSF6B):c.*75G>A

gnomAD frequency: 0.00003  dbSNP: rs1375849919
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665138 SCV000789204 uncertain significance Dyskeratosis congenita, autosomal recessive 5 2017-01-19 criteria provided, single submitter clinical testing

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