ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5190G>A (p.Gln1730=)

gnomAD frequency: 0.00916  dbSNP: rs7142192
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194621 SCV000247357 benign not specified 2020-10-01 criteria provided, single submitter clinical testing
Invitae RCV000468649 SCV000558905 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001545286 SCV001764592 likely benign not provided 2021-04-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000194621 SCV002774579 benign not specified 2021-07-07 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316084 SCV004015699 benign Premature ovarian failure 15 2023-07-07 criteria provided, single submitter clinical testing

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