ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.6271C>A (p.Pro2091Thr)

gnomAD frequency: 0.00006  dbSNP: rs372733273
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris RCV000655915 SCV000777864 likely benign Familial hemolytic anemia 2018-02-27 criteria provided, single submitter clinical testing

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