ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.774G>A (p.Thr258=)

gnomAD frequency: 0.00051  dbSNP: rs12435635
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329817 SCV001521354 uncertain significance Hereditary spherocytosis type 2 2019-09-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV002261340 SCV002541202 uncertain significance not provided 2021-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002261340 SCV004457225 benign not provided 2023-06-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002261340 SCV005041003 uncertain significance not provided 2024-04-01 criteria provided, single submitter clinical testing SPTB: PP3

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