ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.3738C>T (p.Ala1246=)

gnomAD frequency: 0.00001  dbSNP: rs779091056
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713047 SCV000843614 benign not provided 2018-02-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000713047 SCV002313543 likely benign not provided 2021-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000713047 SCV005216712 likely benign not provided criteria provided, single submitter not provided

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