ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.2934C>G (p.Thr978=)

gnomAD frequency: 0.00008  dbSNP: rs777698637
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518199 SCV000615461 benign not specified 2017-07-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060263 SCV002380587 likely benign not provided 2020-12-28 criteria provided, single submitter clinical testing

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