ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3758A>G (p.Asn1253Ser)

gnomAD frequency: 0.02192  dbSNP: rs45604036
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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 RCV000244783 SCV000313700 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000334023 SCV000558914 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001541491 SCV001759498 likely benign not provided 2021-02-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000244783 SCV002046771 benign not specified 2021-04-19 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316440 SCV004015693 benign Premature ovarian failure 15 2023-07-07 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000244783 SCV001800233 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000244783 SCV001806929 benign not specified no assertion criteria provided clinical testing

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