ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.1369G>A (p.Gly457Arg)

gnomAD frequency: 0.00001  dbSNP: rs758894784
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001254170 SCV002790777 uncertain significance Pontocerebellar hypoplasia type 6 2022-02-14 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, RCV001254170 SCV001245443 uncertain significance Pontocerebellar hypoplasia type 6 no assertion criteria provided clinical testing

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