ClinVar Miner

Submissions for variant NM_000049.3(ASPA):c.432G>A (p.Lys144=) (rs754087904)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670708 SCV000795599 uncertain significance Spongy degeneration of central nervous system 2017-11-09 criteria provided, single submitter clinical testing
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, RCV000670708 SCV001250606 uncertain significance Spongy degeneration of central nervous system no assertion criteria provided clinical testing

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