ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.4070C>G (p.Thr1357Ser)

dbSNP: rs200974417
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003991851 SCV004810176 uncertain significance Chromosome 2p16.3 deletion syndrome 2024-04-04 criteria provided, single submitter clinical testing

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