ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.996C>T (p.Asn332=)

gnomAD frequency: 0.00483  dbSNP: rs141060172
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000270118 SCV000387871 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000322815 SCV000387872 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812818 SCV000605308 benign not provided 2023-10-04 criteria provided, single submitter clinical testing
Invitae RCV001812818 SCV002346190 benign not provided 2023-11-14 criteria provided, single submitter clinical testing

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