ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.2712A>G (p.Ser904=)

gnomAD frequency: 0.00001  dbSNP: rs1597376076
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001397512 SCV001599262 likely benign Dyskeratosis congenita 2018-12-25 criteria provided, single submitter clinical testing

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