ClinVar Miner

Submissions for variant NM_000143.3(FH):c.1237-14_1237-9dup (rs779985493)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231245 SCV000283663 likely benign Fumarase deficiency 2017-12-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392318 SCV000356670 likely benign Multiple Cutaneous and Uterine Leiomyomas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310725 SCV000356671 likely benign Multiple cutaneous leiomyomas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000231245 SCV000356672 likely benign Fumarase deficiency 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506835 SCV000603713 likely benign not specified 2017-05-09 criteria provided, single submitter clinical testing

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