ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.848T>A (p.Leu283Gln) (rs1258569046)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dobyns Lab,Seattle Children's Research Institute RCV000779649 SCV000916328 likely pathogenic Pontocerebellar hypoplasia type 6 2019-02-18 no assertion criteria provided research

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