ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.1193G>A (p.Ser398Asn)

dbSNP: rs1553171928
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626235 SCV000746885 uncertain significance Schwartz-Jampel syndrome 2017-12-18 criteria provided, single submitter clinical testing

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