ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.40C>T (p.Pro14Ser)

gnomAD frequency: 0.00150  dbSNP: rs147059670
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001726916 SCV001961444 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing SPTB: BP4, BS4
Labcorp Genetics (formerly Invitae), Labcorp RCV001726916 SCV002476836 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001726916 SCV004227308 uncertain significance not provided 2022-05-16 criteria provided, single submitter clinical testing BP4
PreventionGenetics, part of Exact Sciences RCV003968521 SCV004777015 likely benign SPTB-related disorder 2022-08-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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