ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn)

gnomAD frequency: 0.00068  dbSNP: rs145675502
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000303487 SCV000387843 uncertain significance Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000358248 SCV000387844 uncertain significance Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812815 SCV001157174 uncertain significance not provided 2022-02-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV001329811 SCV001521348 uncertain significance Elliptocytosis 3 2019-09-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001812815 SCV002481653 benign not provided 2023-09-20 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001812815 SCV004227295 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing

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