ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1826del (p.Asp609fs)

dbSNP: rs1574459072
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli RCV000824685 SCV000930698 pathogenic Chromosome 2q32-q33 deletion syndrome 2019-07-10 criteria provided, single submitter clinical testing

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