ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.2303G>A (p.Gly768Asp)

gnomAD frequency: 0.00043  dbSNP: rs147712872
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000267188 SCV000387811 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000322302 SCV000387812 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812812 SCV002048267 likely benign not provided 2022-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001812812 SCV005219459 likely benign not provided criteria provided, single submitter not provided
Labcorp Genetics (formerly Invitae), Labcorp RCV001812812 SCV005729458 benign not provided 2024-04-03 criteria provided, single submitter clinical testing

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