ClinVar Miner

Submissions for variant NM_003128.3(SPTBN1):c.613G>A (p.Gly205Ser)

dbSNP: rs1572690133
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000787939 SCV000926960 uncertain significance SPTBN1-related neurodevelopmental disease 2019-02-06 criteria provided, single submitter clinical testing We have identified several patients with neurodevelopmental disorders and de novo variants in SPTBN1.

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