ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.6324G>A (p.Ala2108=)

gnomAD frequency: 0.00001  dbSNP: rs756164746
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000378211 SCV000387667 uncertain significance Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000286123 SCV000387668 uncertain significance Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002522311 SCV002948761 likely benign not provided 2022-08-02 criteria provided, single submitter clinical testing

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