ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3863A>G (p.Asn1288Ser)

gnomAD frequency: 0.00914  dbSNP: rs116519044
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194131 SCV000247356 benign not specified 2020-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000462590 SCV000558913 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001552999 SCV001773792 likely benign not provided 2021-04-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000194131 SCV002774568 benign not specified 2021-07-07 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316083 SCV004015698 benign Premature ovarian failure 15 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001552999 SCV005211966 likely benign not provided criteria provided, single submitter not provided

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