ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5577T>C (p.Asn1859=)

gnomAD frequency: 0.00300  dbSNP: rs113831595
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226114 SCV000290519 benign Fanconi anemia 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001551145 SCV001771588 likely benign not provided 2021-09-30 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316300 SCV004015703 benign Premature ovarian failure 15 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001551145 SCV004134056 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing FANCM: BP4, BS1
Genetic Services Laboratory, University of Chicago RCV003150998 SCV003839522 benign not specified 2022-09-07 no assertion criteria provided clinical testing

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