ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.1245G>C (p.Gly415=)

dbSNP: rs1987612163
Minimum review status: Collection method:
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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 RCV002203997 SCV002488540 likely benign Dyskeratosis congenita 2022-08-09 criteria provided, single submitter clinical testing

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