ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4260C>T (p.Asp1420=)

gnomAD frequency: 0.00254  dbSNP: rs113819179
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228136 SCV000290514 benign Fanconi anemia 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001562605 SCV001785395 likely benign not provided 2020-12-23 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257594 SCV002529855 likely benign Hereditary cancer-predisposing syndrome 2021-06-25 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316298 SCV004015709 benign Premature ovarian failure 15 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001562605 SCV004134050 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing FANCM: BP4, BP7
Genetic Services Laboratory, University of Chicago RCV003150997 SCV003839525 likely benign not specified 2022-09-07 no assertion criteria provided clinical testing

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