ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.861G>C (p.Leu287=)

gnomAD frequency: 0.00002  dbSNP: rs770236773
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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 RCV000863416 SCV001004069 likely benign Dyskeratosis congenita 2024-10-17 criteria provided, single submitter clinical testing

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