ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1397-14A>T

dbSNP: rs757351765
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237677 SCV002011501 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506810 SCV002814280 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-07-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002540743 SCV003493617 likely benign Fanconi anemia 2023-05-01 criteria provided, single submitter clinical testing

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