ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp)

gnomAD frequency: 0.00002  dbSNP: rs746195427
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663533 SCV001880369 uncertain significance not provided 2020-10-15 criteria provided, single submitter clinical testing
Invitae RCV001663533 SCV002125826 likely benign not provided 2022-07-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495989 SCV002779619 uncertain significance Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14 2022-04-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001663533 SCV005190378 uncertain significance not provided criteria provided, single submitter not provided

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