ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.1929C>G (p.Leu643=)

gnomAD frequency: 0.00002  dbSNP: rs747355437
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 RCV000713031 SCV000843598 benign not provided 2017-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000713031 SCV002416680 likely benign not provided 2022-11-15 criteria provided, single submitter clinical testing

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