ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.5658C>T (p.Ala1886=)

gnomAD frequency: 0.00012  dbSNP: rs199624385
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 RCV000517717 SCV000615489 benign not specified 2016-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000924963 SCV001070490 likely benign not provided 2023-09-19 criteria provided, single submitter clinical testing

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