ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.4236C>T (p.Thr1412=)

gnomAD frequency: 0.00286  dbSNP: rs229639
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000246967 SCV000305915 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000364275 SCV000387761 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000269778 SCV000387762 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812694 SCV001156966 benign not provided 2022-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001812694 SCV004134333 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing SPTB: BP4, BP7, BS2
Invitae RCV001812694 SCV004269389 benign not provided 2023-11-07 criteria provided, single submitter clinical testing

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