ClinVar Miner

Submissions for variant NM_177400.3(NKX6-2):c.450C>G (p.His150Gln)

dbSNP: rs958289238
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333658 SCV001526313 uncertain significance Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 2018-01-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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