ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.2262C>T (p.Ala754=)

gnomAD frequency: 0.00009  dbSNP: rs368022952
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 RCV000516322 SCV000615456 benign not specified 2017-05-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000978483 SCV001126412 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing

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