ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.4634C>T (p.Ala1545Val)

gnomAD frequency: 0.00018  dbSNP: rs150801133
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001644882 SCV001145424 likely benign not specified 2020-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067597 SCV002466131 likely benign not provided 2024-05-20 criteria provided, single submitter clinical testing

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