ClinVar Miner

Submissions for variant NM_182706.5(SCRIB):c.1177C>T (p.Gln393Ter)

dbSNP: rs2130127564
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Institute, Tel Aviv Sourasky Medical Center RCV001391253 SCV001593202 likely pathogenic Neural tube defect 2021-05-12 criteria provided, single submitter clinical testing

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