ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4378A>G (p.Ile1460Val)

gnomAD frequency: 0.08024  dbSNP: rs78211950
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248939 SCV000313701 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000248939 SCV000603594 benign not specified 2016-09-13 criteria provided, single submitter clinical testing
Invitae RCV001521134 SCV001730405 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001668574 SCV001883549 benign not provided 2018-12-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701974 SCV001933305 benign Premature ovarian failure 15 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701906 SCV001933306 benign Spermatogenic failure 28 2021-08-10 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001701974 SCV004015687 benign Premature ovarian failure 15 2023-07-07 criteria provided, single submitter clinical testing

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