ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1964A>G (p.Asn655Ser)

gnomAD frequency: 0.01090  dbSNP: rs61753893
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227373 SCV000290508 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000246701 SCV000313695 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001569522 SCV001793619 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29351780)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000246701 SCV002047092 benign not specified 2021-05-14 criteria provided, single submitter clinical testing

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