ClinVar Miner

Submissions for variant NM_177400.3(NKX6-2):c.287_288dup (p.Ala97fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV003326692 SCV003927847 likely pathogenic Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 2023-04-01 no assertion criteria provided clinical testing

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