ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2632G>T (p.Val878Leu)

gnomAD frequency: 0.19378  dbSNP: rs1367580
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247806 SCV000313698 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000247806 SCV000603593 benign not specified 2016-09-13 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262420 SCV001440284 benign Premature ovarian failure 15 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521133 SCV001730404 benign Fanconi anemia 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001540200 SCV001758057 benign not provided 2019-02-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001262420 SCV001933301 benign Premature ovarian failure 15 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701973 SCV001933302 benign Spermatogenic failure 28 2021-08-10 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001262420 SCV004015686 benign Premature ovarian failure 15 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001540200 SCV005289946 benign not provided criteria provided, single submitter not provided

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