ClinVar Miner

Submissions for variant NM_001940.4(ATN1):c.1467G>A (p.Gln489=)

gnomAD frequency: 0.01283  dbSNP: rs782253884
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546457 SCV001765978 likely benign not provided 2020-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501878 SCV002806481 likely benign Dentatorubral-pallidoluysian atrophy; Congenital hypotonia, epilepsy, developmental delay, and digital anomalies 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001546457 SCV005213708 likely benign not provided criteria provided, single submitter not provided

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