ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5142G>A (p.Ala1714=)

gnomAD frequency: 0.00835  dbSNP: rs111894696
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000228727 SCV000290517 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000249229 SCV000313704 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001556141 SCV001777666 likely benign not provided 2021-08-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000249229 SCV002774656 benign not specified 2021-07-24 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316299 SCV004015701 benign Premature ovarian failure 15 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001556141 SCV005211971 likely benign not provided criteria provided, single submitter not provided

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