ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1551G>A (p.Thr517=)

gnomAD frequency: 0.00047  dbSNP: rs139535827
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000866768 SCV001007907 likely benign Fanconi anemia 2023-12-12 criteria provided, single submitter clinical testing
GeneDx RCV001779091 SCV002015651 likely benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255554 SCV002527312 likely benign Hereditary cancer-predisposing syndrome 2021-04-29 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002501260 SCV002811428 likely benign Spermatogenic failure 28; Premature ovarian failure 15 2021-10-20 criteria provided, single submitter clinical testing

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