ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.5296G>A (p.Ala1766Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences RCV003234962 SCV003934902 likely pathogenic Schwartz-Jampel syndrome type 1 2023-06-15 criteria provided, single submitter research

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