ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.1431G>A (p.Arg477=)

dbSNP: rs886050626
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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 RCV000327115 SCV000387855 uncertain significance Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000379371 SCV000387856 uncertain significance Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736707 SCV004564412 benign not provided 2023-03-08 criteria provided, single submitter clinical testing

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