ClinVar Miner

Submissions for variant NM_001085411.3(NADK2):c.1018C>T (p.Arg340Ter)

gnomAD frequency: 0.00001  dbSNP: rs587777772
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV000144251 SCV001430584 likely pathogenic Progressive encephalopathy with leukodystrophy due to DECR deficiency 2019-06-20 criteria provided, single submitter clinical testing
OMIM RCV000144251 SCV000189409 pathogenic Progressive encephalopathy with leukodystrophy due to DECR deficiency 2014-09-15 no assertion criteria provided literature only

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