ClinVar Miner

Submissions for variant NM_004629.1(FANCG):c.890C>T (p.Thr297Ile) (rs2237857)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000121041 SCV000603582 benign not specified 2017-04-04 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514324 SCV000610984 benign not provided 2017-03-10 criteria provided, single submitter clinical testing
ITMI RCV000121041 SCV000085209 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000302780 SCV000479846 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377286 SCV000484373 likely benign Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282744 SCV000484374 likely benign Inclusion Body Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000302780 SCV000558821 benign Fanconi anemia 2017-07-31 criteria provided, single submitter clinical testing
PreventionGenetics RCV000121041 SCV000310556 likely benign not specified criteria provided, single submitter clinical testing

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