ClinVar Miner

Submissions for variant NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val)

dbSNP: rs1131692048
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV000494724 SCV001426433 pathogenic Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy criteria provided, single submitter clinical testing
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000494724 SCV002574725 pathogenic Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 2022-06-30 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000494724 SCV005038833 pathogenic Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 2024-03-14 criteria provided, single submitter clinical testing
OMIM RCV000494724 SCV000583500 pathogenic Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 2017-07-07 no assertion criteria provided literature only
GeneReviews RCV000494724 SCV000902484 not provided Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy no assertion provided literature only
Yale Center for Mendelian Genomics, Yale University RCV000494724 SCV002106666 likely pathogenic Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 2020-02-27 no assertion criteria provided literature only

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