ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.2399G>A (p.Arg800Gln)

gnomAD frequency: 0.00001  dbSNP: rs144746828
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002125803 SCV002449942 likely benign not provided 2022-06-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002125803 SCV005213051 likely benign not provided criteria provided, single submitter not provided

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