ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3678G>C (p.Thr1226=)

dbSNP: rs748187517
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002131246 SCV002455146 likely benign Fanconi anemia 2024-07-05 criteria provided, single submitter clinical testing

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