ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.6283C>T (p.Arg2095Trp)

gnomAD frequency: 0.00004  dbSNP: rs761960627
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001287936 SCV001474703 uncertain significance not provided 2020-02-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001287936 SCV004537973 benign not provided 2023-01-24 criteria provided, single submitter clinical testing

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